Activity
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| Intellectual disability syndromic and non-syndromic v0.846 | NDUFB9 | Zornitza Stark Phenotypes for gene: NDUFB9 were changed from to Mitochondrial complex I deficiency, nuclear type 24, MIM#618245 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.845 | NDUFB9 | Zornitza Stark Publications for gene: NDUFB9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.844 | NDUFB9 | Zornitza Stark Classified gene: NDUFB9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.844 | NDUFB9 | Zornitza Stark Gene: ndufb9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.843 | NDUFB9 | Zornitza Stark reviewed gene: NDUFB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 22200994; Phenotypes: Mitochondrial complex I deficiency, nuclear type 24, MIM#618245; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.843 | NDUFB3 | Zornitza Stark Marked gene: NDUFB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.843 | NDUFB3 | Zornitza Stark Gene: ndufb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.843 | NDUFB3 | Zornitza Stark Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM#618246 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.842 | NDUFB3 | Zornitza Stark Publications for gene: NDUFB3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.841 | NDUFB3 | Zornitza Stark Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.840 | NDUFB3 | Zornitza Stark reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22277967, 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM#618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.840 | NDUFAF6 | Zornitza Stark Marked gene: NDUFAF6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.840 | NDUFAF6 | Zornitza Stark Gene: ndufaf6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.840 | NDUFAF6 | Zornitza Stark Phenotypes for gene: NDUFAF6 were changed from to Mitochondrial complex I deficiency, nuclear type 17, MIM#618239 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.839 | NDUFAF6 | Zornitza Stark Publications for gene: NDUFAF6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.838 | NDUFAF6 | Zornitza Stark Mode of inheritance for gene: NDUFAF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.837 | NDUFAF6 | Zornitza Stark reviewed gene: NDUFAF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 18614015; Phenotypes: Mitochondrial complex I deficiency, nuclear type 17, MIM#618239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.837 | NDUFAF4 | Zornitza Stark Marked gene: NDUFAF4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.837 | NDUFAF4 | Zornitza Stark Gene: ndufaf4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.837 | NDUFAF4 | Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, nuclear type 15, MIM#618237 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.836 | NDUFAF4 | Zornitza Stark Publications for gene: NDUFAF4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.835 | NDUFAF4 | Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.834 | NDUFAF4 | Zornitza Stark reviewed gene: NDUFAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 18179882, 28853723; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15, MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.834 | NDUFAF3 | Zornitza Stark Marked gene: NDUFAF3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.834 | NDUFAF3 | Zornitza Stark Gene: ndufaf3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.834 | NDUFAF3 | Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, nuclear type 18, MIM#618240 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.833 | NDUFAF3 | Zornitza Stark Publications for gene: NDUFAF3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.832 | NDUFAF3 | Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.831 | NDUFAF3 | Zornitza Stark reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18, MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.831 | NDUFAF2 | Zornitza Stark Marked gene: NDUFAF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.831 | NDUFAF2 | Zornitza Stark Gene: ndufaf2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.831 | NDUFAF2 | Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10, MIM#618233 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.830 | NDUFAF2 | Zornitza Stark Publications for gene: NDUFAF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.829 | NDUFAF2 | Zornitza Stark Mode of inheritance for gene: NDUFAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.828 | NDUFAF2 | Zornitza Stark reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10, MIM#618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.828 | NDUFAF1 | Zornitza Stark reviewed gene: NDUFAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17557076, 21931170, 24963768; Phenotypes: Mitochondrial complex I deficiency, nuclear type 11, MIM#618234; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.828 | NDUFA9 | Zornitza Stark Marked gene: NDUFA9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.828 | NDUFA9 | Zornitza Stark Gene: ndufa9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.828 | NDUFA9 | Zornitza Stark Phenotypes for gene: NDUFA9 were changed from to Mitochondrial complex I deficiency, nuclear type 26, MIM#618247 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.827 | NDUFA9 | Zornitza Stark Publications for gene: NDUFA9 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.826 | NDUFA9 | Zornitza Stark Mode of inheritance for gene: NDUFA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.825 | NDUFA9 | Zornitza Stark reviewed gene: NDUFA9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28671271, 22114105; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26, MIM#618247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.825 | NDUFA2 | Zornitza Stark reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18513682, 28857146; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13, MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.825 | NDUFA11 | Zornitza Stark Marked gene: NDUFA11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.825 | NDUFA11 | Zornitza Stark Gene: ndufa11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.825 | NDUFA11 | Zornitza Stark Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.824 | NDUFA11 | Zornitza Stark Publications for gene: NDUFA11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.823 | NDUFA11 | Zornitza Stark Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.822 | NDUFA11 | Zornitza Stark Classified gene: NDUFA11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.822 | NDUFA11 | Zornitza Stark Gene: ndufa11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.821 | NDUFA11 | Zornitza Stark reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.821 | NDUFA10 | Zornitza Stark Marked gene: NDUFA10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.821 | NDUFA10 | Zornitza Stark Gene: ndufa10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.821 | NDUFA10 | Zornitza Stark Phenotypes for gene: NDUFA10 were changed from to Mitochondrial complex I deficiency, nuclear type 22, MIM#618243 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.820 | NDUFA10 | Zornitza Stark Publications for gene: NDUFA10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.819 | NDUFA10 | Zornitza Stark Mode of inheritance for gene: NDUFA10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.818 | NDUFA10 | Zornitza Stark reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21150889, 26741492; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.818 | NDN | Zornitza Stark Marked gene: NDN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.818 | NDN | Zornitza Stark Gene: ndn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.818 | NDN | Zornitza Stark Classified gene: NDN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.818 | NDN | Zornitza Stark Gene: ndn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.817 | NDN | Zornitza Stark reviewed gene: NDN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.817 | NAGS | Zornitza Stark Marked gene: NAGS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.817 | NAGS | Zornitza Stark Gene: nags has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.817 | NAGS | Zornitza Stark Phenotypes for gene: NAGS were changed from to N-acetylglutamate synthase deficiency, MIM#237310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.816 | NAGS | Zornitza Stark Mode of inheritance for gene: NAGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.815 | NAGS | Zornitza Stark Classified gene: NAGS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.815 | NAGS | Zornitza Stark Gene: nags has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.814 | NAGS | Zornitza Stark reviewed gene: NAGS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylglutamate synthase deficiency, MIM#237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.814 | CLCN2 | Zornitza Stark Marked gene: CLCN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.814 | CLCN2 | Zornitza Stark Gene: clcn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.814 | CLCN2 | Zornitza Stark Phenotypes for gene: CLCN2 were changed from to Leukoencephalopathy with ataxia, MIM#615651 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.813 | CLCN2 | Zornitza Stark Publications for gene: CLCN2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.812 | CLCN2 | Zornitza Stark Mode of inheritance for gene: CLCN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.811 | CLCN2 | Zornitza Stark Classified gene: CLCN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.811 | CLCN2 | Zornitza Stark Gene: clcn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.810 | CISD2 | Zornitza Stark Marked gene: CISD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.810 | CISD2 | Zornitza Stark Gene: cisd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.810 | CISD2 | Zornitza Stark Phenotypes for gene: CISD2 were changed from to Wolfram syndrome 2, MIM#604928 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.809 | CISD2 | Zornitza Stark Mode of inheritance for gene: CISD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.808 | CISD2 | Zornitza Stark Classified gene: CISD2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.808 | CISD2 | Zornitza Stark Gene: cisd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.807 | CHST14 | Zornitza Stark Marked gene: CHST14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.807 | CHST14 | Zornitza Stark Gene: chst14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.807 | CHST14 | Zornitza Stark Phenotypes for gene: CHST14 were changed from to Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.806 | CHST14 | Zornitza Stark Publications for gene: CHST14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.805 | CHST14 | Zornitza Stark Mode of inheritance for gene: CHST14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.804 | CHST14 | Zornitza Stark Classified gene: CHST14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.804 | CHST14 | Zornitza Stark Gene: chst14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.803 | CACNA1E | Zornitza Stark Marked gene: CACNA1E as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.803 | CACNA1E | Zornitza Stark Gene: cacna1e has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.803 | CACNA1E | Zornitza Stark Classified gene: CACNA1E as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.803 | CACNA1E | Zornitza Stark Gene: cacna1e has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.802 | ATAD1 | Zornitza Stark Marked gene: ATAD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.802 | ATAD1 | Zornitza Stark Gene: atad1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.802 | ATAD1 | Zornitza Stark Classified gene: ATAD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.802 | ATAD1 | Zornitza Stark Gene: atad1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.801 | ASTN1 | Zornitza Stark Marked gene: ASTN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.801 | ASTN1 | Zornitza Stark Gene: astn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.801 | ASTN1 | Zornitza Stark Classified gene: ASTN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.801 | ASTN1 | Zornitza Stark Gene: astn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.800 | ASH1L | Zornitza Stark Marked gene: ASH1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.800 | ASH1L | Zornitza Stark Gene: ash1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.800 | ASH1L | Zornitza Stark Classified gene: ASH1L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.800 | ASH1L | Zornitza Stark Gene: ash1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.799 | AGO3 | Zornitza Stark Marked gene: AGO3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.799 | AGO3 | Zornitza Stark Gene: ago3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.799 | AGO3 |
Zornitza Stark gene: AGO3 was added gene: AGO3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: AGO3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AGO3 were set to 25271087 Phenotypes for gene: AGO3 were set to Intellectual disability Review for gene: AGO3 was set to RED Added comment: Five children with heterozygous deletions of AGO3 reported; however deletions also encompass AGO1 and therefore gene-disease association cannot be firmly established until SNVs reported/functional data becomes available. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.798 | ADRA2B | Zornitza Stark Marked gene: ADRA2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.798 | ADRA2B | Zornitza Stark Gene: adra2b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.798 | ADRA2B |
Zornitza Stark gene: ADRA2B was added gene: ADRA2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: ADRA2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ADRA2B were set to 24114805; 21937992 Phenotypes for gene: ADRA2B were set to Cortical myoclonus and epilepsy; Intellectual disability Review for gene: ADRA2B was set to RED Added comment: Two families reported but same mutation, ?founder effect. Most affected individuals had normal intellect. Another paper linking to AR intellectual disability but as part of manuscript reporting multiple novel candidates. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.797 | CFHR3 | Zornitza Stark Marked gene: CFHR3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.797 | CFHR3 | Zornitza Stark Gene: cfhr3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.797 | CFHR3 | Zornitza Stark Phenotypes for gene: CFHR3 were changed from to Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.796 | CFHR3 | Zornitza Stark Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.795 | CFHR3 | Zornitza Stark Classified gene: CFHR3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.795 | CFHR3 | Zornitza Stark Gene: cfhr3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.794 | CFHR1 | Zornitza Stark Marked gene: CFHR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.794 | CFHR1 | Zornitza Stark Gene: cfhr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.794 | CFHR1 | Zornitza Stark Phenotypes for gene: CFHR1 were changed from to Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.793 | CFHR1 | Zornitza Stark Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.792 | CFHR1 | Zornitza Stark Classified gene: CFHR1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.792 | CFHR1 | Zornitza Stark Gene: cfhr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.791 | CFH | Zornitza Stark Marked gene: CFH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.791 | CFH | Zornitza Stark Gene: cfh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.791 | CFH | Zornitza Stark Phenotypes for gene: CFH were changed from to Complement factor H deficiency, MIM#609814 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.790 | CFH | Zornitza Stark Mode of inheritance for gene: CFH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.789 | CFH | Zornitza Stark Classified gene: CFH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.789 | CFH | Zornitza Stark Gene: cfh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.788 | CEP89 | Zornitza Stark Marked gene: CEP89 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.788 | CEP89 | Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.788 | CEP89 | Zornitza Stark Phenotypes for gene: CEP89 were changed from to Mitochondrial complex IV deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.787 | CEP89 | Zornitza Stark Publications for gene: CEP89 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.786 | CEP89 | Zornitza Stark Mode of inheritance for gene: CEP89 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.785 | CEP89 | Zornitza Stark Classified gene: CEP89 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.785 | CEP89 | Zornitza Stark Gene: cep89 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.784 | CEP63 | Zornitza Stark Marked gene: CEP63 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.784 | CEP63 | Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.784 | CEP63 | Zornitza Stark Phenotypes for gene: CEP63 were changed from to Seckel syndrome 6, MIM#614728 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.783 | CEP63 | Zornitza Stark Publications for gene: CEP63 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.782 | CEP63 | Zornitza Stark Mode of inheritance for gene: CEP63 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.781 | CEP63 | Zornitza Stark Classified gene: CEP63 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.781 | CEP63 | Zornitza Stark Gene: cep63 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.780 | CDT1 | Zornitza Stark Marked gene: CDT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.780 | CDT1 | Zornitza Stark Gene: cdt1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.780 | CDT1 | Zornitza Stark Phenotypes for gene: CDT1 were changed from to Meier-Gorlin syndrome 4, MIM#613804 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.779 | CDT1 | Zornitza Stark Mode of inheritance for gene: CDT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.778 | CDT1 | Zornitza Stark Classified gene: CDT1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.778 | CDT1 | Zornitza Stark Gene: cdt1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.777 | CDK6 | Zornitza Stark Marked gene: CDK6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.777 | CDK6 | Zornitza Stark Gene: cdk6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.777 | CDK6 | Zornitza Stark Phenotypes for gene: CDK6 were changed from to Microcephaly 12, primary, autosomal recessive, MIM#616080 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.776 | CDK6 | Zornitza Stark Publications for gene: CDK6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.775 | CDK6 | Zornitza Stark Mode of inheritance for gene: CDK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.774 | CDK6 | Zornitza Stark Classified gene: CDK6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.774 | CDK6 | Zornitza Stark Gene: cdk6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.773 | CDK16 | Zornitza Stark Marked gene: CDK16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.773 | CDK16 | Zornitza Stark Gene: cdk16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.773 | CDK16 | Zornitza Stark Phenotypes for gene: CDK16 were changed from to Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.772 | CDK16 | Zornitza Stark Publications for gene: CDK16 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.771 | CDK16 | Zornitza Stark Mode of inheritance for gene: CDK16 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.770 | CDK16 | Zornitza Stark Classified gene: CDK16 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.770 | CDK16 | Zornitza Stark Gene: cdk16 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.769 | CD96 | Zornitza Stark Marked gene: CD96 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.769 | CD96 | Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.769 | CD96 | Zornitza Stark Phenotypes for gene: CD96 were changed from to C syndrome, MIM#211750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.768 | CD96 | Zornitza Stark Publications for gene: CD96 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.767 | CD96 | Zornitza Stark Mode of inheritance for gene: CD96 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.766 | CD96 | Zornitza Stark Classified gene: CD96 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.766 | CD96 | Zornitza Stark Gene: cd96 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.765 | CCDC8 | Zornitza Stark Marked gene: CCDC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.765 | CCDC8 | Zornitza Stark Gene: ccdc8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.765 | CCDC8 | Zornitza Stark Phenotypes for gene: CCDC8 were changed from to 3-M syndrome 3, MIM#614205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.764 | CCDC8 | Zornitza Stark Publications for gene: CCDC8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.763 | CCDC8 | Zornitza Stark Mode of inheritance for gene: CCDC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.762 | CCDC8 | Zornitza Stark Classified gene: CCDC8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.762 | CCDC8 | Zornitza Stark Gene: ccdc8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.761 | CCDC78 | Zornitza Stark Marked gene: CCDC78 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.761 | CCDC78 | Zornitza Stark Gene: ccdc78 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.761 | CCDC78 | Zornitza Stark Phenotypes for gene: CCDC78 were changed from to Centronuclear myopathy 4, MIM#614807 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.760 | CCDC78 | Zornitza Stark Publications for gene: CCDC78 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.759 | CCDC78 | Zornitza Stark Mode of inheritance for gene: CCDC78 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.758 | CCDC78 | Zornitza Stark Classified gene: CCDC78 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.758 | CCDC78 | Zornitza Stark Gene: ccdc78 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.757 | CACNA1G | Zornitza Stark Marked gene: CACNA1G as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.757 | CACNA1G | Zornitza Stark Gene: cacna1g has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.757 | CACNA1G | Zornitza Stark Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.756 | CACNA1G | Zornitza Stark Publications for gene: CACNA1G were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.755 | CACNA1G | Zornitza Stark Mode of inheritance for gene: CACNA1G was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.754 | CA8 | Zornitza Stark Marked gene: CA8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.754 | CA8 | Zornitza Stark Gene: ca8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.754 | CA8 | Zornitza Stark Phenotypes for gene: CA8 were changed from to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.753 | CA8 | Zornitza Stark Publications for gene: CA8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.752 | CA8 | Zornitza Stark Mode of inheritance for gene: CA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.751 | CA2 | Zornitza Stark Marked gene: CA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.751 | CA2 | Zornitza Stark Gene: ca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.751 | CA2 | Zornitza Stark Phenotypes for gene: CA2 were changed from to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.750 | CA2 | Zornitza Stark Mode of inheritance for gene: CA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.749 | C3orf58 | Zornitza Stark Marked gene: C3orf58 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.749 | C3orf58 | Zornitza Stark Gene: c3orf58 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.749 | C3orf58 | Zornitza Stark Classified gene: C3orf58 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.749 | C3orf58 | Zornitza Stark Gene: c3orf58 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.748 | C19orf12 | Zornitza Stark Marked gene: C19orf12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.748 | C19orf12 | Zornitza Stark Gene: c19orf12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.748 | C19orf12 | Zornitza Stark Phenotypes for gene: C19orf12 were changed from to Neurodegeneration with brain iron accumulation 4, MIM#614298 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.747 | C19orf12 | Zornitza Stark Mode of inheritance for gene: C19orf12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.746 | C19orf12 | Zornitza Stark Classified gene: C19orf12 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.746 | C19orf12 | Zornitza Stark Gene: c19orf12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.745 | BSND | Zornitza Stark Marked gene: BSND as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.745 | BSND | Zornitza Stark Gene: bsnd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.745 | BSND | Zornitza Stark Phenotypes for gene: BSND were changed from to Bartter syndrome, type 4a, MIM#602522 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.744 | BSND | Zornitza Stark Mode of inheritance for gene: BSND was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.743 | BRAT1 | Zornitza Stark Marked gene: BRAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.743 | BRAT1 | Zornitza Stark Gene: brat1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.743 | BRAT1 | Zornitza Stark Phenotypes for gene: BRAT1 were changed from to Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.742 | BRAT1 | Zornitza Stark Publications for gene: BRAT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.741 | BRAT1 | Zornitza Stark Mode of inheritance for gene: BRAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.740 | BMPER | Zornitza Stark Marked gene: BMPER as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.740 | BMPER | Zornitza Stark Gene: bmper has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.740 | BMPER | Zornitza Stark Phenotypes for gene: BMPER were changed from to Diaphanospondylodysostosis, MIM#608022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.739 | BMPER | Zornitza Stark Mode of inheritance for gene: BMPER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.738 | BICD2 | Zornitza Stark Marked gene: BICD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.738 | BICD2 | Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.738 | BICD2 | Zornitza Stark Phenotypes for gene: BICD2 were changed from to Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.737 | BICD2 | Zornitza Stark Mode of inheritance for gene: BICD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.736 | BICD2 | Zornitza Stark Classified gene: BICD2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.736 | BICD2 | Zornitza Stark Gene: bicd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.735 | BDNF | Zornitza Stark Marked gene: BDNF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.735 | BDNF | Zornitza Stark Gene: bdnf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.735 | BDNF | Zornitza Stark Phenotypes for gene: BDNF were changed from to Central hypoventilation syndrome, congenital, MIM#209880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.734 | BDNF | Zornitza Stark Mode of inheritance for gene: BDNF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.733 | BDNF | Zornitza Stark Classified gene: BDNF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.733 | BDNF | Zornitza Stark Gene: bdnf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.732 | BBIP1 | Zornitza Stark Marked gene: BBIP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.732 | BBIP1 | Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.732 | BBIP1 | Zornitza Stark Phenotypes for gene: BBIP1 were changed from to Bardet-Biedl syndrome 18, MIM#615995 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.731 | BBIP1 | Zornitza Stark Publications for gene: BBIP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.730 | BBIP1 | Zornitza Stark Mode of inheritance for gene: BBIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.729 | BBIP1 | Zornitza Stark Classified gene: BBIP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.729 | BBIP1 | Zornitza Stark Gene: bbip1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.728 | B9D2 | Zornitza Stark Marked gene: B9D2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.728 | B9D2 | Zornitza Stark Gene: b9d2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.728 | B9D2 | Zornitza Stark Phenotypes for gene: B9D2 were changed from to Joubert syndrome 34, MIM#614175; Meckel syndrome 10, MIM#614175 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.727 | B9D2 | Zornitza Stark Publications for gene: B9D2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.726 | B9D2 | Zornitza Stark Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.725 | B9D1 | Zornitza Stark Marked gene: B9D1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.725 | B9D1 | Zornitza Stark Gene: b9d1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.725 | B9D1 | Zornitza Stark Phenotypes for gene: B9D1 were changed from to Joubert syndrome 27, MIM#617120; Meckel syndrome 9, MIM#614209 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.724 | B9D1 | Zornitza Stark Publications for gene: B9D1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.723 | B9D1 | Zornitza Stark Mode of inheritance for gene: B9D1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.722 | B4GALT1 | Zornitza Stark Marked gene: B4GALT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.722 | B4GALT1 | Zornitza Stark Gene: b4galt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.722 | B4GALT1 | Zornitza Stark Phenotypes for gene: B4GALT1 were changed from to Congenital disorder of glycosylation, type Iid, MIM#607091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.721 | B4GALT1 | Zornitza Stark Publications for gene: B4GALT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.720 | B4GALT1 | Zornitza Stark Mode of inheritance for gene: B4GALT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.719 | B3GAT3 | Zornitza Stark Marked gene: B3GAT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.719 | B3GAT3 | Zornitza Stark Gene: b3gat3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.719 | B3GAT3 | Zornitza Stark Phenotypes for gene: B3GAT3 were changed from to Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.718 | B3GAT3 | Zornitza Stark Mode of inheritance for gene: B3GAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.717 | B3GAT3 | Zornitza Stark Classified gene: B3GAT3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.717 | B3GAT3 | Zornitza Stark Gene: b3gat3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.716 | B3GALT6 | Zornitza Stark Marked gene: B3GALT6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.716 | B3GALT6 | Zornitza Stark Gene: b3galt6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.716 | B3GALT6 | Zornitza Stark Phenotypes for gene: B3GALT6 were changed from to Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.715 | B3GALT6 | Zornitza Stark Mode of inheritance for gene: B3GALT6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.714 | B3GALT6 | Zornitza Stark Classified gene: B3GALT6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.714 | B3GALT6 | Zornitza Stark Gene: b3galt6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.713 | AHCY | Zornitza Stark Marked gene: AHCY as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.713 | AHCY | Zornitza Stark Gene: ahcy has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.713 | AHCY | Zornitza Stark Phenotypes for gene: AHCY were changed from to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.712 | AHCY | Zornitza Stark Mode of inheritance for gene: AHCY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.711 | ASNS | Zornitza Stark Marked gene: ASNS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.711 | ASNS | Zornitza Stark Gene: asns has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.711 | ASNS | Zornitza Stark Phenotypes for gene: ASNS were changed from to Asparagine synthetase deficiency, MIM#615574 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.710 | ASL | Zornitza Stark Marked gene: ASL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.710 | ASL | Zornitza Stark Gene: asl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.710 | ASL | Zornitza Stark Phenotypes for gene: ASL were changed from to Argininosuccinic aciduria, MIM#207900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.709 | ASL | Zornitza Stark Mode of inheritance for gene: ASL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.708 | ALX3 | Zornitza Stark Marked gene: ALX3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.708 | ALX3 | Zornitza Stark Gene: alx3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.708 | ALX3 | Zornitza Stark Phenotypes for gene: ALX3 were changed from to Frontonasal dysplasia 1, MIM#136760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.707 | ALX3 | Zornitza Stark Publications for gene: ALX3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.706 | ALX3 | Zornitza Stark Mode of inheritance for gene: ALX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.705 | ALX1 | Zornitza Stark Marked gene: ALX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.705 | ALX1 | Zornitza Stark Gene: alx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.705 | ALX1 | Zornitza Stark Phenotypes for gene: ALX1 were changed from to Frontonasal dysplasia 3, MIM#613456 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.704 | ALX1 | Zornitza Stark Publications for gene: ALX1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.703 | ALX1 | Zornitza Stark Mode of inheritance for gene: ALX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.702 | ALX1 | Zornitza Stark Classified gene: ALX1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.702 | ALX1 | Zornitza Stark Gene: alx1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.701 | ALG14 | Zornitza Stark Marked gene: ALG14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.701 | ALG14 | Zornitza Stark Gene: alg14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.701 | ALG14 | Zornitza Stark Phenotypes for gene: ALG14 were changed from to Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227; Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.700 | ALG14 | Zornitza Stark Publications for gene: ALG14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.699 | ALG14 | Zornitza Stark Mode of inheritance for gene: ALG14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.698 | ALDOB | Zornitza Stark Marked gene: ALDOB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.698 | ALDOB | Zornitza Stark Gene: aldob has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.698 | ALDOB | Zornitza Stark Phenotypes for gene: ALDOB were changed from to Fructose intolerance, hereditary, MIM#229600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.697 | ALDOB | Zornitza Stark Mode of inheritance for gene: ALDOB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.696 | AGA | Zornitza Stark Marked gene: AGA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.696 | AGA | Zornitza Stark Gene: aga has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.696 | AGA | Zornitza Stark Phenotypes for gene: AGA were changed from to Aspartylglucosaminuria, MIM#208400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.695 | AGA | Zornitza Stark Mode of inheritance for gene: AGA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.694 | ADD3 | Zornitza Stark Marked gene: ADD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.694 | ADD3 | Zornitza Stark Gene: add3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.694 | ADD3 | Zornitza Stark Phenotypes for gene: ADD3 were changed from to Cerebral palsy, spastic quadriplegic, 3, MIM#617008 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.693 | ADD3 | Zornitza Stark Publications for gene: ADD3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.692 | ADD3 | Zornitza Stark Mode of inheritance for gene: ADD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.691 | ADAT3 | Zornitza Stark Marked gene: ADAT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.691 | ADAT3 | Zornitza Stark Gene: adat3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.691 | ADAT3 | Zornitza Stark Phenotypes for gene: ADAT3 were changed from to Mental retardation, autosomal recessive 36, MIM#615286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.690 | ADAT3 | Zornitza Stark Publications for gene: ADAT3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.689 | ADAT3 | Zornitza Stark Mode of inheritance for gene: ADAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.688 | ADAMTS10 | Zornitza Stark Marked gene: ADAMTS10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.688 | ADAMTS10 | Zornitza Stark Gene: adamts10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.688 | ADAMTS10 | Zornitza Stark Phenotypes for gene: ADAMTS10 were changed from to Weill-Marchesani syndrome 1, recessive, MIM#277600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.687 | ADAMTS10 | Zornitza Stark Mode of inheritance for gene: ADAMTS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.686 | ACTL6A | Zornitza Stark Marked gene: ACTL6A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.686 | ACTL6A | Zornitza Stark Gene: actl6a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.686 | ACTL6A | Zornitza Stark Phenotypes for gene: ACTL6A were changed from to Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.685 | ACTL6A | Zornitza Stark Publications for gene: ACTL6A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.684 | ACTL6A | Zornitza Stark Mode of inheritance for gene: ACTL6A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.683 | AVPR2 | Zornitza Stark Marked gene: AVPR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.683 | AVPR2 | Zornitza Stark Gene: avpr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.683 | AVPR2 | Zornitza Stark Phenotypes for gene: AVPR2 were changed from to Diabetes insipidus, nephrogenic, MIM#304800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.682 | AVPR2 | Zornitza Stark Mode of inheritance for gene: AVPR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.681 | AVPR2 | Zornitza Stark Classified gene: AVPR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.681 | AVPR2 | Zornitza Stark Gene: avpr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.680 | AVPR1A | Zornitza Stark Marked gene: AVPR1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.680 | AVPR1A | Zornitza Stark Gene: avpr1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.680 | AVPR1A | Zornitza Stark Classified gene: AVPR1A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.680 | AVPR1A | Zornitza Stark Gene: avpr1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.679 | AVP | Zornitza Stark Marked gene: AVP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.679 | AVP | Zornitza Stark Gene: avp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.679 | AVP | Zornitza Stark Phenotypes for gene: AVP were changed from to Diabetes insipidus, neurohypophyseal, MIM#125700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.678 | AVP | Zornitza Stark Mode of inheritance for gene: AVP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.677 | AVP | Zornitza Stark Classified gene: AVP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.677 | AVP | Zornitza Stark Gene: avp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.676 | ATXN10 | Zornitza Stark Marked gene: ATXN10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.676 | ATXN10 | Zornitza Stark Gene: atxn10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.676 | ATXN10 | Zornitza Stark Phenotypes for gene: ATXN10 were changed from to Spinocerebellar ataxia 10, MIM#603516 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.675 | ATXN10 | Zornitza Stark Mode of inheritance for gene: ATXN10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.674 | ATXN10 | Zornitza Stark Classified gene: ATXN10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.674 | ATXN10 | Zornitza Stark Gene: atxn10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.673 | ATP8A2 | Zornitza Stark Marked gene: ATP8A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.673 | ATP8A2 | Zornitza Stark Gene: atp8a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.673 | ATP8A2 | Zornitza Stark Phenotypes for gene: ATP8A2 were changed from to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.672 | ATP8A2 | Zornitza Stark Publications for gene: ATP8A2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.671 | ATP8A2 | Zornitza Stark Mode of inheritance for gene: ATP8A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.670 | ATP2B3 | Zornitza Stark Marked gene: ATP2B3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.670 | ATP2B3 | Zornitza Stark Gene: atp2b3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.670 | ATP2B3 | Zornitza Stark Phenotypes for gene: ATP2B3 were changed from to Spinocerebellar ataxia, X-linked 1, MIM#302500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.669 | ATP2B3 | Zornitza Stark Publications for gene: ATP2B3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.668 | ATP2B3 | Zornitza Stark Classified gene: ATP2B3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.668 | ATP2B3 | Zornitza Stark Gene: atp2b3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.667 | ATP2A2 | Zornitza Stark Marked gene: ATP2A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.667 | ATP2A2 | Zornitza Stark Gene: atp2a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.667 | ATP2A2 | Zornitza Stark Phenotypes for gene: ATP2A2 were changed from to Darier disease, MIM#124200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.666 | ATP2A2 | Zornitza Stark Mode of inheritance for gene: ATP2A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.665 | ATP2A2 | Zornitza Stark Classified gene: ATP2A2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.665 | ATP2A2 | Zornitza Stark Gene: atp2a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.664 | ATP1A3 | Zornitza Stark Marked gene: ATP1A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.664 | ATP1A3 | Zornitza Stark Gene: atp1a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.664 | ATP1A3 | Zornitza Stark Phenotypes for gene: ATP1A3 were changed from to Alternating hemiplegia of childhood 2, MIM#614820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.663 | ATP1A3 | Zornitza Stark Mode of inheritance for gene: ATP1A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.662 | ATP1A3 | Zornitza Stark Classified gene: ATP1A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.662 | ATP1A3 | Zornitza Stark Gene: atp1a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.661 | ATP10A | Zornitza Stark Marked gene: ATP10A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.661 | ATP10A | Zornitza Stark Gene: atp10a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.661 | ATP10A | Zornitza Stark Publications for gene: ATP10A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.660 | ATP10A | Zornitza Stark Mode of inheritance for gene: ATP10A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.659 | ATP10A | Zornitza Stark Classified gene: ATP10A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.659 | ATP10A | Zornitza Stark Gene: atp10a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.658 | ARNT2 | Zornitza Stark Marked gene: ARNT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.658 | ARNT2 | Zornitza Stark Gene: arnt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.658 | ARNT2 | Zornitza Stark Phenotypes for gene: ARNT2 were changed from to Webb-Dattani syndrome 615926 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.657 | ARNT2 | Zornitza Stark Publications for gene: ARNT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.656 | ARNT2 | Zornitza Stark Mode of inheritance for gene: ARNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.655 | ARNT2 | Zornitza Stark Classified gene: ARNT2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.655 | ARNT2 | Zornitza Stark Gene: arnt2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.654 | ARHGAP31 | Zornitza Stark Marked gene: ARHGAP31 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.654 | ARHGAP31 | Zornitza Stark Gene: arhgap31 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.654 | ARHGAP31 | Zornitza Stark Phenotypes for gene: ARHGAP31 were changed from to Adams-Oliver syndrome 1, MIM#100300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.653 | ARHGAP31 | Zornitza Stark Mode of inheritance for gene: ARHGAP31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.652 | ARHGAP31 | Zornitza Stark Classified gene: ARHGAP31 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.652 | ARHGAP31 | Zornitza Stark Gene: arhgap31 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.651 | APTX | Zornitza Stark Marked gene: APTX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.651 | APTX | Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.651 | APTX | Zornitza Stark Phenotypes for gene: APTX were changed from to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MIM#208920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.650 | APTX | Zornitza Stark Mode of inheritance for gene: APTX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.649 | APTX | Zornitza Stark Classified gene: APTX as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.649 | APTX | Zornitza Stark Gene: aptx has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.648 | ANKH | Zornitza Stark Marked gene: ANKH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.648 | ANKH | Zornitza Stark Gene: ankh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.648 | ANKH | Zornitza Stark Phenotypes for gene: ANKH were changed from to Craniometaphyseal dysplasia, MIM#123000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.647 | ANKH | Zornitza Stark Mode of inheritance for gene: ANKH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.646 | ANKH | Zornitza Stark Classified gene: ANKH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.646 | ANKH | Zornitza Stark Gene: ankh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.645 | ALS2 | Zornitza Stark Marked gene: ALS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.645 | ALS2 | Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.645 | ALS2 | Zornitza Stark Phenotypes for gene: ALS2 were changed from to Spastic paralysis, infantile onset ascending, MIM#607225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.644 | ALS2 | Zornitza Stark Mode of inheritance for gene: ALS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.643 | ALS2 | Zornitza Stark Classified gene: ALS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.643 | ALS2 | Zornitza Stark Gene: als2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.642 | ALDOA | Zornitza Stark Marked gene: ALDOA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.642 | ALDOA | Zornitza Stark Gene: aldoa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.642 | ALDOA | Zornitza Stark Phenotypes for gene: ALDOA were changed from to Glycogen storage disease XII, MIM#611881 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.641 | ALDOA | Zornitza Stark Mode of inheritance for gene: ALDOA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.640 | ALDOA | Zornitza Stark Classified gene: ALDOA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.640 | ALDOA | Zornitza Stark Gene: aldoa has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.639 | AKR1C2 | Zornitza Stark Marked gene: AKR1C2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.639 | AKR1C2 | Zornitza Stark Gene: akr1c2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.639 | AKR1C2 | Zornitza Stark Phenotypes for gene: AKR1C2 were changed from to 46XY sex reversal 8, MIM#614279 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.638 | AKR1C2 | Zornitza Stark Mode of inheritance for gene: AKR1C2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.637 | AKR1C2 | Zornitza Stark Classified gene: AKR1C2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.637 | AKR1C2 | Zornitza Stark Gene: akr1c2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.636 | AKAP6 | Zornitza Stark Marked gene: AKAP6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.636 | AKAP6 | Zornitza Stark Gene: akap6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.636 | AKAP6 | Zornitza Stark Phenotypes for gene: AKAP6 were changed from to Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.635 | AKAP6 | Zornitza Stark Publications for gene: AKAP6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.634 | AKAP6 | Zornitza Stark Mode of inheritance for gene: AKAP6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.633 | AKAP6 | Zornitza Stark Classified gene: AKAP6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.633 | AKAP6 | Zornitza Stark Gene: akap6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.632 | AGTR2 | Zornitza Stark Marked gene: AGTR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.632 | AGTR2 | Zornitza Stark Gene: agtr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.632 | AGTR2 | Zornitza Stark Classified gene: AGTR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.632 | AGTR2 | Zornitza Stark Gene: agtr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.631 | AGT | Zornitza Stark Marked gene: AGT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.631 | AGT | Zornitza Stark Gene: agt has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.631 | AGT | Zornitza Stark Phenotypes for gene: AGT were changed from to Renal tubular dysgenesis, MIM#267430 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.630 | AGT | Zornitza Stark Mode of inheritance for gene: AGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.629 | AGT | Zornitza Stark Classified gene: AGT as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.629 | AGT | Zornitza Stark Gene: agt has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.628 | AGPS | Zornitza Stark Marked gene: AGPS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.628 | AGPS | Zornitza Stark Gene: agps has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.628 | AGPS | Zornitza Stark Phenotypes for gene: AGPS were changed from to Rhizomelic chondrodysplasia punctata, type 3, MIM#600121 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.627 | AGPS | Zornitza Stark Mode of inheritance for gene: AGPS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.626 | AGPS | Zornitza Stark Classified gene: AGPS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.626 | AGPS | Zornitza Stark Gene: agps has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.625 | AGK | Zornitza Stark Marked gene: AGK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.625 | AGK | Zornitza Stark Gene: agk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.625 | AGK | Zornitza Stark Phenotypes for gene: AGK were changed from to Sengers syndrome, MIM#212350 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.624 | AGK | Zornitza Stark Mode of inheritance for gene: AGK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.623 | AGK | Zornitza Stark Classified gene: AGK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.623 | AGK | Zornitza Stark Gene: agk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.622 | AGGF1 | Zornitza Stark Marked gene: AGGF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.622 | AGGF1 | Zornitza Stark Gene: aggf1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.622 | AGGF1 | Zornitza Stark Classified gene: AGGF1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.622 | AGGF1 | Zornitza Stark Gene: aggf1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.621 | AFG3L2 | Zornitza Stark Marked gene: AFG3L2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.621 | AFG3L2 | Zornitza Stark Gene: afg3l2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.621 | AFG3L2 | Zornitza Stark Phenotypes for gene: AFG3L2 were changed from to Spastic ataxia 5, autosomal recessive, MIM#614487 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.620 | AFG3L2 | Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.619 | AFG3L2 | Zornitza Stark Classified gene: AFG3L2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.619 | AFG3L2 | Zornitza Stark Gene: afg3l2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.618 | CHD1 | Zornitza Stark Marked gene: CHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.618 | CHD1 | Zornitza Stark Gene: chd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.618 | CHD1 | Zornitza Stark Classified gene: CHD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.618 | CHD1 | Zornitza Stark Gene: chd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.617 | ADCY5 | Zornitza Stark Marked gene: ADCY5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.617 | ADCY5 | Zornitza Stark Gene: adcy5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.617 | ADCY5 | Zornitza Stark Phenotypes for gene: ADCY5 were changed from to Dyskinesia, familial, with facial myokymia, MIM#606703 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.616 | ADCY5 | Zornitza Stark Mode of inheritance for gene: ADCY5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.615 | ADCY5 | Zornitza Stark Classified gene: ADCY5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.615 | ADCY5 | Zornitza Stark Gene: adcy5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.614 | ADAMTSL2 | Zornitza Stark Marked gene: ADAMTSL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.614 | ADAMTSL2 | Zornitza Stark Gene: adamtsl2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.614 | ADAMTSL2 | Zornitza Stark Phenotypes for gene: ADAMTSL2 were changed from to Geleophysic dysplasia 1, MIM#231050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.613 | ADAMTSL2 | Zornitza Stark Mode of inheritance for gene: ADAMTSL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.612 | ADAMTSL2 | Zornitza Stark Classified gene: ADAMTSL2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.612 | ADAMTSL2 | Zornitza Stark Gene: adamtsl2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.611 | ADA2 | Zornitza Stark Marked gene: ADA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.611 | ADA2 | Zornitza Stark Gene: ada2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.611 | ADA2 | Zornitza Stark Phenotypes for gene: ADA2 were changed from to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM#615688 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.610 | ADA2 | Zornitza Stark Mode of inheritance for gene: ADA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.609 | ADA2 | Zornitza Stark Classified gene: ADA2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.609 | ADA2 | Zornitza Stark Gene: ada2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.608 | MAP4K4 | Zornitza Stark Marked gene: MAP4K4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.608 | MAP4K4 | Zornitza Stark Gene: map4k4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.608 | MAP4K4 |
Zornitza Stark gene: MAP4K4 was added gene: MAP4K4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: MAP4K4 was set to Unknown Review for gene: MAP4K4 was set to RED Added comment: Cannot find evidence for gene-disease association. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.607 | LZTR1 | Zornitza Stark Marked gene: LZTR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.607 | LZTR1 | Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.607 | LZTR1 | Zornitza Stark Classified gene: LZTR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.607 | LZTR1 | Zornitza Stark Gene: lztr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.606 | LZTR1 |
Zornitza Stark gene: LZTR1 was added gene: LZTR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LZTR1 were set to Noonan syndrome 10, MIM#616564; Noonan syndrome 2, MIM#605275 Review for gene: LZTR1 was set to GREEN Added comment: Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.605 | LAMB2 | Zornitza Stark Marked gene: LAMB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.605 | LAMB2 | Zornitza Stark Gene: lamb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.605 | LAMB2 | Zornitza Stark Phenotypes for gene: LAMB2 were changed from to Pierson syndrome, MIM#609049 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.604 | LAMB2 | Zornitza Stark Mode of inheritance for gene: LAMB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.603 | LAMB2 | Zornitza Stark reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pierson syndrome, MIM#609049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.603 | LZTFL1 | Zornitza Stark Marked gene: LZTFL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.603 | LZTFL1 | Zornitza Stark Gene: lztfl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.603 | LZTFL1 | Zornitza Stark Mode of inheritance for gene: LZTFL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.602 | LZTFL1 | Zornitza Stark reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22510444, 23692385, 27312011; Phenotypes: Bardet-Biedl syndrome 17, MIM#615994; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.602 | LYST | Zornitza Stark Marked gene: LYST as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.602 | LYST | Zornitza Stark Gene: lyst has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.602 | LYST | Zornitza Stark Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, MIM#214500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.601 | LYST | Zornitza Stark Mode of inheritance for gene: LYST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.600 | LYST | Zornitza Stark reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome, MIM#214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.600 | LYRM7 | Zornitza Stark Marked gene: LYRM7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.600 | LYRM7 | Zornitza Stark Gene: lyrm7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.600 | LYRM7 | Zornitza Stark Phenotypes for gene: LYRM7 were changed from to Mitochondrial complex III deficiency, nuclear type 8, MIM#615838 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.599 | LYRM7 | Zornitza Stark Mode of inheritance for gene: LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.598 | LYRM7 | Zornitza Stark reviewed gene: LYRM7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 8, MIM#615838; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.598 | LMNB1 | Zornitza Stark Marked gene: LMNB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.598 | LMNB1 | Zornitza Stark Gene: lmnb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.598 | LMNB1 | Zornitza Stark Phenotypes for gene: LMNB1 were changed from to Leukodystrophy, adult-onset, autosomal dominant, MIM#169500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.597 | LMNB1 | Zornitza Stark Mode of inheritance for gene: LMNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.596 | LMNB1 | Zornitza Stark Classified gene: LMNB1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.596 | LMNB1 | Zornitza Stark Gene: lmnb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.595 | LMNB1 | Zornitza Stark reviewed gene: LMNB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, adult-onset, autosomal dominant, MIM#169500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.595 | LMNA | Zornitza Stark Marked gene: LMNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.595 | LMNA | Zornitza Stark Gene: lmna has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.595 | LMNA | Zornitza Stark Classified gene: LMNA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.595 | LMNA | Zornitza Stark Gene: lmna has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.594 | LMNA | Zornitza Stark reviewed gene: LMNA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.594 | LIPT1 | Zornitza Stark Marked gene: LIPT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.594 | LIPT1 | Zornitza Stark Gene: lipt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.594 | LIPT1 | Zornitza Stark Phenotypes for gene: LIPT1 were changed from to Lipoyltransferase 1 deficiency, MIM#616299 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.593 | LIPT1 | Zornitza Stark Publications for gene: LIPT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.592 | LIPT1 | Zornitza Stark Mode of inheritance for gene: LIPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.591 | LIPT1 | Zornitza Stark reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24341803, 24256811, 29681092; Phenotypes: Lipoyltransferase 1 deficiency, MIM#616299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.591 | LINGO1 | Zornitza Stark Classified gene: LINGO1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.591 | LINGO1 | Zornitza Stark Gene: lingo1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.590 | LINGO1 | Zornitza Stark Marked gene: LINGO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.590 | LINGO1 | Zornitza Stark Gene: lingo1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.590 | LINGO1 | Zornitza Stark Classified gene: LINGO1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.590 | LINGO1 | Zornitza Stark Gene: lingo1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.589 | LINGO1 |
Zornitza Stark gene: LINGO1 was added gene: LINGO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: LINGO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LINGO1 were set to 28837161 Phenotypes for gene: LINGO1 were set to Mental retardation, autosomal recessive 64, MIM#618103 Review for gene: LINGO1 was set to GREEN Added comment: Five individuals from two unrelated families, no functional evidence. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.588 | LIAS | Zornitza Stark Marked gene: LIAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.588 | LIAS | Zornitza Stark Gene: lias has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.588 | LIAS | Zornitza Stark Phenotypes for gene: LIAS were changed from to Hyperglycinemia, lactic acidosis, and seizures, MIM#614462 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.587 | LIAS | Zornitza Stark Publications for gene: LIAS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.586 | LIAS | Zornitza Stark Mode of inheritance for gene: LIAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.585 | LIAS | Zornitza Stark reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24334290, 22152680; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures, MIM#614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.585 | LGI4 | Zornitza Stark Marked gene: LGI4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.585 | LGI4 | Zornitza Stark Gene: lgi4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.585 | LGI4 | Zornitza Stark Phenotypes for gene: LGI4 were changed from to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.584 | LGI4 | Zornitza Stark Mode of inheritance for gene: LGI4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.583 | LGI4 | Zornitza Stark Classified gene: LGI4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.583 | LGI4 | Zornitza Stark Gene: lgi4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.582 | LGI4 | Zornitza Stark reviewed gene: LGI4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.582 | LBR | Zornitza Stark Marked gene: LBR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.582 | LBR | Zornitza Stark Gene: lbr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.582 | LBR | Zornitza Stark Phenotypes for gene: LBR were changed from to Greenberg skeletal dysplasia, MIM#215140; 3 Pelger-Huet anomaly, MIM#169400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.581 | LBR | Zornitza Stark Mode of inheritance for gene: LBR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.580 | LBR | Zornitza Stark Classified gene: LBR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.580 | LBR | Zornitza Stark Gene: lbr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.579 | LBR | Zornitza Stark reviewed gene: LBR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Greenberg skeletal dysplasia, MIM#215140, 3 Pelger-Huet anomaly, MIM#169400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.579 | KYNU | Zornitza Stark edited their review of gene: KYNU: Changed phenotypes: Hydroxykynureninuria, MIM#236800, Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.579 | KYNU | Zornitza Stark Marked gene: KYNU as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.579 | KYNU | Zornitza Stark Gene: kynu has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.579 | KYNU | Zornitza Stark Phenotypes for gene: KYNU were changed from to Hydroxykynureninuria, MIM#236800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.578 | KYNU | Zornitza Stark Publications for gene: KYNU were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.577 | KYNU | Zornitza Stark Classified gene: KYNU as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.577 | KYNU | Zornitza Stark Gene: kynu has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.576 | KYNU | Zornitza Stark reviewed gene: KYNU: Rating: RED; Mode of pathogenicity: None; Publications: 28792876, 17334708; Phenotypes: Hydroxykynureninuria, MIM#236800; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.576 | KMT5B | Zornitza Stark Marked gene: KMT5B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.576 | KMT5B | Zornitza Stark Gene: kmt5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.576 | KMT5B | Zornitza Stark Classified gene: KMT5B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.576 | KMT5B | Zornitza Stark Gene: kmt5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.575 | KMT5B |
Zornitza Stark gene: KMT5B was added gene: KMT5B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT5B were set to 25363768; 28191889; 29276005 Phenotypes for gene: KMT5B were set to Mental retardation, autosomal dominant 51, MIM#617788 Review for gene: KMT5B was set to GREEN Added comment: Multiple affected individuals from unrelated families. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.574 | KMT2B | Zornitza Stark Marked gene: KMT2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.574 | KMT2B | Zornitza Stark Gene: kmt2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.574 | KMT2B | Zornitza Stark Phenotypes for gene: KMT2B were changed from to Dystonia 28, childhood-onset, MIM#617284 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.573 | KMT2B | Zornitza Stark Mode of inheritance for gene: KMT2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.572 | KMT2B | Zornitza Stark reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 28, childhood-onset, MIM#617284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.572 | KLLN | Zornitza Stark Publications for gene: KLLN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.571 | KLLN | Zornitza Stark Classified gene: KLLN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.571 | KLLN | Zornitza Stark Gene: klln has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.570 | KLLN | Zornitza Stark reviewed gene: KLLN: Rating: RED; Mode of pathogenicity: None; Publications: 21177507; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.570 | KLF8 | Zornitza Stark Marked gene: KLF8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.570 | KLF8 | Zornitza Stark Gene: klf8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.570 | KLF8 | Zornitza Stark Publications for gene: KLF8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.569 | KLF8 | Zornitza Stark Classified gene: KLF8 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.569 | KLF8 | Zornitza Stark Gene: klf8 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.568 | KLF8 | Zornitza Stark reviewed gene: KLF8: Rating: RED; Mode of pathogenicity: None; Publications: 11836360; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.568 | KLF7 | Zornitza Stark Phenotypes for gene: KLF7 were changed from to Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.567 | KLF7 | Zornitza Stark Publications for gene: KLF7 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.566 | KLF7 | Zornitza Stark Mode of inheritance for gene: KLF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.565 | KLF7 | Zornitza Stark reviewed gene: KLF7: Rating: GREEN; Mode of pathogenicity: None; Publications: 29251763; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.565 | KIRREL3 | Zornitza Stark Marked gene: KIRREL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.565 | KIRREL3 | Zornitza Stark Gene: kirrel3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.565 | KIRREL3 | Zornitza Stark Phenotypes for gene: KIRREL3 were changed from to Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.564 | KIRREL3 | Zornitza Stark Publications for gene: KIRREL3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.563 | KIRREL3 | Zornitza Stark Mode of inheritance for gene: KIRREL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.562 | KIRREL3 | Zornitza Stark Classified gene: KIRREL3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.562 | KIRREL3 | Zornitza Stark Gene: kirrel3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.561 | KIRREL3 | Zornitza Stark reviewed gene: KIRREL3: Rating: RED; Mode of pathogenicity: None; Publications: 19012874; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.561 | KIF21A | Zornitza Stark Marked gene: KIF21A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.561 | KIF21A | Zornitza Stark Gene: kif21a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.561 | KIF21A | Zornitza Stark Phenotypes for gene: KIF21A were changed from to Fibrosis of extraocular muscles, congenital, 1, MIM#135700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.560 | KIF21A | Zornitza Stark Mode of inheritance for gene: KIF21A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.559 | KIF21A | Zornitza Stark Classified gene: KIF21A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.559 | KIF21A | Zornitza Stark Gene: kif21a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.558 | KIF21A | Zornitza Stark reviewed gene: KIF21A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fibrosis of extraocular muscles, congenital, 1, MIM#135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.558 | KIF16B | Zornitza Stark Marked gene: KIF16B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.558 | KIF16B | Zornitza Stark Gene: kif16b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.558 | KIF16B | Zornitza Stark Phenotypes for gene: KIF16B were changed from to Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.557 | KIF16B | Zornitza Stark Publications for gene: KIF16B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.556 | KIF16B | Zornitza Stark Mode of inheritance for gene: KIF16B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.555 | KIF16B | Zornitza Stark Classified gene: KIF16B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.555 | KIF16B | Zornitza Stark Gene: kif16b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.554 | KIF16B | Zornitza Stark reviewed gene: KIF16B: Rating: RED; Mode of pathogenicity: None; Publications: 29736960; Phenotypes: Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.554 | KDM6B | Zornitza Stark Marked gene: KDM6B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.554 | KDM6B | Zornitza Stark Gene: kdm6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.554 | KDM6B | Zornitza Stark Classified gene: KDM6B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.554 | KDM6B | Zornitza Stark Gene: kdm6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.553 | KDM6B |
Zornitza Stark gene: KDM6B was added gene: KDM6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KDM6B were set to 31124279 Phenotypes for gene: KDM6B were set to Intellectual disability Review for gene: KDM6B was set to GREEN Added comment: 12 unrelated individuals with de novo variants in this gene, no functional evidence reported but KDM6B involved in histone methylation. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.552 | KCTD13 | Zornitza Stark Marked gene: KCTD13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.552 | KCTD13 | Zornitza Stark Gene: kctd13 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.552 | KCTD13 | Zornitza Stark Phenotypes for gene: KCTD13 were changed from to Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.551 | KCTD13 | Zornitza Stark Publications for gene: KCTD13 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.550 | KCTD13 | Zornitza Stark Mode of inheritance for gene: KCTD13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.549 | KCTD13 | Zornitza Stark Classified gene: KCTD13 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.549 | KCTD13 | Zornitza Stark Gene: kctd13 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.548 | KCTD13 | Zornitza Stark reviewed gene: KCTD13: Rating: RED; Mode of pathogenicity: None; Publications: 22596160, 29088697; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.548 | KCNMA1 | Zornitza Stark Marked gene: KCNMA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.548 | KCNMA1 | Zornitza Stark Gene: kcnma1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.548 | KCNMA1 | Zornitza Stark Phenotypes for gene: KCNMA1 were changed from to Cerebellar atrophy, developmental delay, and seizures, MIM# 617643; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM#609446 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.547 | KCNMA1 | Zornitza Stark Publications for gene: KCNMA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.546 | KCNMA1 | Zornitza Stark Mode of inheritance for gene: KCNMA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.545 | KCNMA1 | Zornitza Stark reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27567911, 29545233, 26195193, 31427379; Phenotypes: Cerebellar atrophy, developmental delay, and seizures, MIM# 617643, Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM#609446; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.545 | KCNJ1 | Zornitza Stark Marked gene: KCNJ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.545 | KCNJ1 | Zornitza Stark Gene: kcnj1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.545 | KCNJ1 | Zornitza Stark Phenotypes for gene: KCNJ1 were changed from to Bartter syndrome, type 2, MIM#241200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.544 | KCNJ1 | Zornitza Stark Mode of inheritance for gene: KCNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.543 | KCNJ1 | Zornitza Stark Classified gene: KCNJ1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.543 | KCNJ1 | Zornitza Stark Gene: kcnj1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.542 | KCNJ1 | Zornitza Stark reviewed gene: KCNJ1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 2, MIM#241200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.542 | KCND3 | Zornitza Stark Marked gene: KCND3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.542 | KCND3 | Zornitza Stark Gene: kcnd3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.542 | KCND3 | Zornitza Stark Phenotypes for gene: KCND3 were changed from to Spinocerebellar ataxia 19, MIM#607346 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.541 | KCND3 | Zornitza Stark Mode of inheritance for gene: KCND3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.540 | KCND3 | Zornitza Stark Classified gene: KCND3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.540 | KCND3 | Zornitza Stark Gene: kcnd3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.539 | KCND3 | Zornitza Stark reviewed gene: KCND3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 19, MIM#607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.539 | KCNC3 | Zornitza Stark Marked gene: KCNC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.539 | KCNC3 | Zornitza Stark Gene: kcnc3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.539 | KCNC3 | Zornitza Stark Phenotypes for gene: KCNC3 were changed from to Spinocerebellar ataxia 13, MIM#605259 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.538 | KCNC3 | Zornitza Stark Mode of inheritance for gene: KCNC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.537 | KCNC3 | Zornitza Stark Classified gene: KCNC3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.537 | KCNC3 | Zornitza Stark Gene: kcnc3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.536 | KCNC3 | Zornitza Stark reviewed gene: KCNC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 13, MIM#605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.536 | KARS | Zornitza Stark Marked gene: KARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.536 | KARS | Zornitza Stark Gene: kars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.536 | KARS | Zornitza Stark Classified gene: KARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.536 | KARS | Zornitza Stark Gene: kars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.535 | KARS |
Zornitza Stark gene: KARS was added gene: KARS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KARS were set to 26741492; 31618474; 28887846; 25330800; 29615062; 30252186; 28496994 Phenotypes for gene: KARS were set to Combined mitochondrial oxidative phosphorylation deficiency; epilepsy; intellectual disability; microcephaly Review for gene: KARS was set to GREEN gene: KARS was marked as current diagnostic Added comment: Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.534 | TREM2 | Chirag Patel Classified gene: TREM2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.534 | TREM2 | Chirag Patel Gene: trem2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.533 | TREM2 |
Chirag Patel Source Genetic Health Queensland was removed from TREM2. Source Expert list was added to TREM2. Phenotypes for gene: TREM2 were changed from to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2; OMIM #618193 |
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| Intellectual disability syndromic and non-syndromic v0.532 | TREM2 | Chirag Patel reviewed gene: TREM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM #618193; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.532 | TRHR | Chirag Patel Classified gene: TRHR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.532 | TRHR | Chirag Patel Gene: trhr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.531 | TRHR |
Chirag Patel Source Genetic Health Queensland was removed from TRHR. Source Expert list was added to TRHR. Mode of inheritance for gene TRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRHR were changed from to Hypothyroidism, congenital, nongoitrous, 7; OMIM #618573 |
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| Intellectual disability syndromic and non-syndromic v0.530 | TRHR | Chirag Patel reviewed gene: TRHR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous, 7, OMIM #618573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.530 | TRIM37 | Chirag Patel Classified gene: TRIM37 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.530 | TRIM37 | Chirag Patel Gene: trim37 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.529 | TRIM37 |
Chirag Patel Source Genetic Health Queensland was removed from TRIM37. Source Expert list was added to TRIM37. Mode of inheritance for gene TRIM37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM37 were changed from to Mulibrey nanism; OMIM #253250 |
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| Intellectual disability syndromic and non-syndromic v0.528 | TRIM37 | Chirag Patel reviewed gene: TRIM37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mulibrey nanism, OMIM #253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.527 | TRRAP | Chirag Patel Classified gene: TRRAP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.527 | TRRAP | Chirag Patel Gene: trrap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.526 | TRRAP | Chirag Patel commented on gene: TRRAP: 31 unrelated patients with global developmental delay and variably impaired intellectual development associated with de novo heterozygous mutations of TRRAP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.526 | TRRAP |
Chirag Patel gene: TRRAP was added gene: TRRAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRRAP were set to PubMed: 30827496 Phenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism; OMIM #618454 Review for gene: TRRAP was set to GREEN Added comment: Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.525 | TRMT1 | Chirag Patel Publications for gene TRMT1 were changed from PMID: 30289604; 26308914; 21937992 to PMID: 30289604; 26308914; 21937992 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.524 | TRMT1 | Chirag Patel Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.524 | TRMT1 |
Chirag Patel edited their review of gene: TRMT1: Added comment: 4 families reported: -1 consanguineous Iranian family with 5 individuals with nonsyndromic moderate to severe impaired intellectual development. -1 consanguineous Iranian family with 3 adult brothers with global developmental delay and moderately delayed intellectual development -2 unrelated Pakistani families with 4 patients with impaired intellectual development. All with homozygous mutations in the TRMT1 gene which segregated with the disorder in the families, but functional studies of the variants were not performed.; Changed publications: PMID: 30289604, 26308914, 21937992 |
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| Intellectual disability syndromic and non-syndromic v0.524 | TRMT1 |
Chirag Patel Source Genetic Health Queensland was removed from TRMT1. Source Expert list was added to TRMT1. Mode of inheritance for gene TRMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMT1 were changed from to Mental retardation, autosomal recessive 68; OMIM #618302 Publications for gene TRMT1 were changed from PMID: 30289604; 26308914 to PMID: 30289604; 26308914 |
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| Intellectual disability syndromic and non-syndromic v0.523 | TRMT1 | Chirag Patel reviewed gene: TRMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30289604, 26308914; Phenotypes: Mental retardation, autosomal recessive 68, OMIM #618302; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.523 | TRNT1 | Chirag Patel Phenotypes for gene: TRNT1 were changed from Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; OMIM #616084 to Retinitis pigmentosa and erythrocytic microcytosis, OMIM #616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.522 | TRNT1 |
Chirag Patel Source Genetic Health Queensland was removed from TRNT1. Source Expert list was added to TRNT1. Mode of inheritance for gene TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRNT1 were changed from to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay; OMIM #616084 Publications for gene TRNT1 were changed from PubMed: 25193871; 23553769; 29170023; 27389523 to PubMed: 25193871; 23553769; 29170023; 27389523 |
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| Intellectual disability syndromic and non-syndromic v0.521 | TRNT1 | Chirag Patel reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 25193871, 23553769, 29170023, 27389523; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, OMIM #616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM #616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.521 | TTC21B | Chirag Patel Classified gene: TTC21B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.521 | TTC21B | Chirag Patel Gene: ttc21b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.520 | TTC21B |
Chirag Patel Source Genetic Health Queensland was removed from TTC21B. Source Expert list was added to TTC21B. Mode of inheritance for gene TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC21B were changed from to Nephronophthisis 12, OMIM #613820; Short-rib thoracic dysplasia 4 with or without polydactyly; OMIM #613819 |
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| Intellectual disability syndromic and non-syndromic v0.519 | TTC21B | Chirag Patel reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 12, OMIM #613820, Short-rib thoracic dysplasia 4 with or without polydactyly, OMIM #613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.519 | TTR | Chirag Patel Classified gene: TTR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.519 | TTR | Chirag Patel Gene: ttr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.518 | TTR |
Chirag Patel Source Genetic Health Queensland was removed from TTR. Source Expert list was added to TTR. Mode of inheritance for gene TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, OMIM #105210; Carpal tunnel syndrome, familial; OMIM #115430 |
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| Intellectual disability syndromic and non-syndromic v0.517 | TTR | Chirag Patel reviewed gene: TTR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, hereditary, transthyretin-related, OMIM #105210, Carpal tunnel syndrome, familial, OMIM #115430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.517 | TUFM | Chirag Patel Classified gene: TUFM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.517 | TUFM | Chirag Patel Gene: tufm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.516 | TUFM |
Chirag Patel Source Genetic Health Queensland was removed from TUFM. Source Expert list was added to TUFM. Mode of inheritance for gene TUFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUFM were changed from to Combined oxidative phosphorylation deficiency 4; OMIM #610678 Publications for gene TUFM were changed from PubMed: 26741492; 17160893 to PubMed: 26741492; 17160893 |
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| Intellectual disability syndromic and non-syndromic v0.515 | TUFM | Chirag Patel Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.515 | TUFM |
Chirag Patel edited their review of gene: TUFM: Added comment: Developmental regression seen as part of mitochondrial disorder - 3 families 1 patient with rapidly progressive encephalopathy and homozygous missense mutation in the TUFM gene. No functional studies. 2 families with 2 children each with COXPD4 and biallelic mutations in the TUFM gene. The mutations segregated with the disorder in the families. Complementation with wildtype TUFM restored the complex I and IV assembly and complex IV activity levels in fibroblasts from 1 of the patients.; Changed rating: AMBER |
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| Intellectual disability syndromic and non-syndromic v0.515 | TUFM | Chirag Patel reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26741492, 17160893; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.515 | TWNK | Chirag Patel Classified gene: TWNK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.515 | TWNK | Chirag Patel Gene: twnk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.514 | TWNK |
Chirag Patel Source Genetic Health Queensland was removed from TWNK. Source Expert list was added to TWNK. Mode of inheritance for gene TWNK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM #271245; Perrault syndrome 5, OMIM #616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM #609286 |
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| Intellectual disability syndromic and non-syndromic v0.513 | TWNK | Chirag Patel reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM #271245, Perrault syndrome 5, OMIM #616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM #609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.513 | KANK1 | Zornitza Stark Marked gene: KANK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.513 | KANK1 | Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.513 | KANK1 | Zornitza Stark Phenotypes for gene: KANK1 were changed from to Cerebral palsy, spastic quadriplegic, 2, MIM#612900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.512 | KANK1 | Zornitza Stark Publications for gene: KANK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.511 | KANK1 | Zornitza Stark Mode of inheritance for gene: KANK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.510 | KANK1 | Zornitza Stark Classified gene: KANK1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.510 | KANK1 | Zornitza Stark Gene: kank1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.509 | KANK1 | Zornitza Stark reviewed gene: KANK1: Rating: RED; Mode of pathogenicity: None; Publications: 16301218, 30684669; Phenotypes: Cerebral palsy, spastic quadriplegic, 2, MIM#612900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.509 | ACTA1 | Zornitza Stark Marked gene: ACTA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.509 | ACTA1 | Zornitza Stark Gene: acta1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.509 | ACTA1 | Zornitza Stark Phenotypes for gene: ACTA1 were changed from to Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800; Nemaline myopathy 3, MIM#161800; Myopathy, actin, congenital, with cores, MIM#161800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.508 | ACTA1 | Zornitza Stark Publications for gene: ACTA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.507 | ACTA1 | Zornitza Stark Mode of inheritance for gene: ACTA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.506 | ACTA1 | Zornitza Stark Classified gene: ACTA1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.506 | ACTA1 | Zornitza Stark Gene: acta1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.505 | ABCG5 | Zornitza Stark Marked gene: ABCG5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.505 | ABCG5 | Zornitza Stark Gene: abcg5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.505 | ABCG5 | Zornitza Stark Phenotypes for gene: ABCG5 were changed from to Sitosterolemia 2, MIM#618666 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.504 | ABCG5 | Zornitza Stark Mode of inheritance for gene: ABCG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.503 | ABCG5 | Zornitza Stark Classified gene: ABCG5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.503 | ABCG5 | Zornitza Stark Gene: abcg5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.502 | JAG1 | Zornitza Stark Marked gene: JAG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.502 | JAG1 | Zornitza Stark Gene: jag1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.502 | JAG1 | Zornitza Stark Phenotypes for gene: JAG1 were changed from to Alagille syndrome 1, MIM#118450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.501 | JAG1 | Zornitza Stark Mode of inheritance for gene: JAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.500 | JAG1 | Zornitza Stark Classified gene: JAG1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.500 | JAG1 | Zornitza Stark Gene: jag1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.499 | JAG1 | Zornitza Stark reviewed gene: JAG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 1, MIM#118450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.499 | IYD | Zornitza Stark Marked gene: IYD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.499 | IYD | Zornitza Stark Gene: iyd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.499 | IYD | Zornitza Stark Phenotypes for gene: IYD were changed from to Thyroid dyshormonogenesis 4, MIM#274800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.498 | IYD | Zornitza Stark Mode of inheritance for gene: IYD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.497 | IYD | Zornitza Stark Classified gene: IYD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.497 | IYD | Zornitza Stark Gene: iyd has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.496 | IYD | Zornitza Stark reviewed gene: IYD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 4, MIM#274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.496 | ITCH | Zornitza Stark Marked gene: ITCH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.496 | ITCH | Zornitza Stark Gene: itch has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.496 | ITCH | Zornitza Stark Phenotypes for gene: ITCH were changed from to Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.495 | ITCH | Zornitza Stark Publications for gene: ITCH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.494 | ITCH | Zornitza Stark Mode of inheritance for gene: ITCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.493 | ITCH | Zornitza Stark Classified gene: ITCH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.493 | ITCH | Zornitza Stark Gene: itch has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.492 | ITCH | Zornitza Stark reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: None; Publications: 20170897; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.492 | IREB2 | Zornitza Stark Marked gene: IREB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.492 | IREB2 | Zornitza Stark Gene: ireb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.492 | IREB2 | Zornitza Stark Classified gene: IREB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.492 | IREB2 | Zornitza Stark Gene: ireb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.491 | IREB2 |
Zornitza Stark gene: IREB2 was added gene: IREB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Literature Mode of inheritance for gene: IREB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IREB2 were set to 30915432; 31243445; 11175792 Phenotypes for gene: IREB2 were set to Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451 Review for gene: IREB2 was set to GREEN Added comment: Two affected individuals from unrelated families with functional evidence including concordant phenotype in mice. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.490 | INS | Zornitza Stark Marked gene: INS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.490 | INS | Zornitza Stark Gene: ins has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.490 | INS | Zornitza Stark Phenotypes for gene: INS were changed from to Diabetes mellitus, permanent neonatal, MIM#606176 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.489 | INS | Zornitza Stark Mode of inheritance for gene: INS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.488 | INS | Zornitza Stark Classified gene: INS as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.488 | INS | Zornitza Stark Gene: ins has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.487 | INS | Zornitza Stark reviewed gene: INS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal, MIM#606176; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.487 | IMPA1 | Zornitza Stark Marked gene: IMPA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.487 | IMPA1 | Zornitza Stark Gene: impa1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.487 | IMPA1 | Zornitza Stark Phenotypes for gene: IMPA1 were changed from to Mental retardation, autosomal recessive 59, MIM#617323 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.486 | IMPA1 | Zornitza Stark Publications for gene: IMPA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.485 | IMPA1 | Zornitza Stark Mode of inheritance for gene: IMPA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.484 | IMPA1 | Zornitza Stark Classified gene: IMPA1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.484 | IMPA1 | Zornitza Stark Gene: impa1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.483 | IMPA1 | Zornitza Stark reviewed gene: IMPA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26416544, 30616629; Phenotypes: Mental retardation, autosomal recessive 59, MIM#617323; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.483 | IMMP2L | Zornitza Stark Marked gene: IMMP2L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.483 | IMMP2L | Zornitza Stark Gene: immp2l has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.483 | IMMP2L | Zornitza Stark Phenotypes for gene: IMMP2L were changed from to Autism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.482 | IMMP2L | Zornitza Stark Publications for gene: IMMP2L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.481 | IMMP2L | Zornitza Stark Mode of inheritance for gene: IMMP2L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.480 | IMMP2L | Zornitza Stark Classified gene: IMMP2L as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.480 | IMMP2L | Zornitza Stark Gene: immp2l has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.479 | IMMP2L | Zornitza Stark reviewed gene: IMMP2L: Rating: RED; Mode of pathogenicity: None; Publications: 29788020, 29152845; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.479 | IFT27 | Zornitza Stark Marked gene: IFT27 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.479 | IFT27 | Zornitza Stark Gene: ift27 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.479 | IGF2 | Zornitza Stark Phenotypes for gene: IGF2 were changed from to Growth restriction, severe, with distinctive facies, MIM#616489 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.478 | IGF2 | Zornitza Stark Publications for gene: IGF2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.477 | IGF2 | Zornitza Stark Classified gene: IGF2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.477 | IGF2 | Zornitza Stark Gene: igf2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.476 | IGF2 | Zornitza Stark reviewed gene: IGF2: Rating: RED; Mode of pathogenicity: None; Publications: 31544945, 26154720; Phenotypes: Growth restriction, severe, with distinctive facies, MIM#616489; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.476 | IFT27 | Zornitza Stark Phenotypes for gene: IFT27 were changed from to Bardet-Biedl syndrome 19, MIM#615996 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.475 | IFT27 | Zornitza Stark Publications for gene: IFT27 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.474 | IFT27 | Zornitza Stark Mode of inheritance for gene: IFT27 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.473 | IFT27 | Zornitza Stark reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: None; Publications: 24488770, 30761183; Phenotypes: Bardet-Biedl syndrome 19, MIM#615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.473 | RNF135 | Chirag Patel Classified gene: RNF135 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.473 | RNF135 | Chirag Patel Added comment: Comment on list classification: d/w Z.Stark - see review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.473 | RNF135 | Chirag Patel Gene: rnf135 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.472 | MYMK | Chirag Patel Classified gene: MYMK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.472 | MYMK | Chirag Patel Added comment: Comment on list classification: r/v with Dr Stark - not ID gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.472 | MYMK | Chirag Patel Gene: mymk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.471 | UQCC2 | Chirag Patel changed review comment from: Only 2 patients with mitochondrial disorder reported and they had ID; to: Only 2 patients with mitochondrial disorder reported and they had ID, with some functional evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.471 | UQCRQ | Chirag Patel Classified gene: UQCRQ as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.471 | UQCRQ | Chirag Patel Added comment: Comment on list classification: r/v with Z.Stark - one family and no reports >10 years. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.471 | UQCRQ | Chirag Patel Gene: uqcrq has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.470 | VPS37A | Chirag Patel Classified gene: VPS37A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.470 | VPS37A | Chirag Patel Added comment: Comment on list classification: r/v with Z.Stark - 2 families with functional data. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.470 | VPS37A | Chirag Patel Gene: vps37a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.469 | WASHC4 | Chirag Patel Classified gene: WASHC4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.469 | WASHC4 | Chirag Patel Added comment: Comment on list classification: r/v with Z.Stark - single family with limited functional evidence | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.469 | WASHC4 | Chirag Patel Gene: washc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.468 | WASHC5 | Chirag Patel Classified gene: WASHC5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.468 | WASHC5 | Chirag Patel Added comment: Comment on list classification: reviewed with Z.Stark - one family with founder mutation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.468 | WASHC5 | Chirag Patel Gene: washc5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.467 | ZNF423 | Chirag Patel Classified gene: ZNF423 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.467 | ZNF423 | Chirag Patel Added comment: Comment on list classification: reviewed with Zornitza stark - single family only. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.467 | ZNF423 | Chirag Patel Gene: znf423 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.466 | ZNF423 | Chirag Patel Classified gene: ZNF423 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.466 | ZNF423 | Chirag Patel Gene: znf423 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.465 | ZNF674 | Chirag Patel Classified gene: ZNF674 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.465 | ZNF674 | Chirag Patel Gene: znf674 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.464 | DUOXA2 | Zornitza Stark Classified gene: DUOXA2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.464 | DUOXA2 | Zornitza Stark Gene: duoxa2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.463 | DUOXA2 | Zornitza Stark edited their review of gene: DUOXA2: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.463 | GCK | Zornitza Stark Classified gene: GCK as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.463 | GCK | Zornitza Stark Gene: gck has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.462 | GCK | Zornitza Stark edited their review of gene: GCK: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.462 | MYO7A | Chirag Patel Classified gene: MYO7A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.462 | MYO7A | Chirag Patel Gene: myo7a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.461 | MYO7A |
Chirag Patel Source Genetic Health Queensland was removed from MYO7A. Source Expert list was added to MYO7A. Mode of inheritance for gene MYO7A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYO7A were changed from to Deafness, autosomal dominant 11, OMIM #601317; Deafness, autosomal recessive 2, OMIM #600060; Usher syndrome, type 1B, OMIM #276900 |
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| Intellectual disability syndromic and non-syndromic v0.460 | MYO7A | Chirag Patel reviewed gene: MYO7A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 11, OMIM #601317, Deafness, autosomal recessive 2, OMIM #600060, Usher syndrome, type 1B, OMIM #276900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.460 | MYMK | Chirag Patel Classified gene: MYMK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.460 | MYMK | Chirag Patel Gene: mymk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.459 | MYMK |
Chirag Patel Source Genetic Health Queensland was removed from MYMK. Source Expert list was added to MYMK. Mode of inheritance for gene MYMK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYMK were changed from to Carey-Fineman-Ziter syndrome; OMIM #254940 |
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| Intellectual disability syndromic and non-syndromic v0.458 | MYMK | Chirag Patel reviewed gene: MYMK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Carey-Fineman-Ziter syndrome, OMIM #254940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.458 | MYH3 | Chirag Patel Classified gene: MYH3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.458 | MYH3 | Chirag Patel Gene: myh3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.457 | MYH3 |
Chirag Patel Source Genetic Health Queensland was removed from MYH3. Source Expert list was added to MYH3. Mode of inheritance for gene MYH3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYH3 were changed from to Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436; Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110; Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469 |
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| Intellectual disability syndromic and non-syndromic v0.456 | MYH3 | Chirag Patel reviewed gene: MYH3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM #193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM #618436, Contractures, pterygia, and variable skeletal fusions syndrome 1A, OMIM #178110, Contractures, pterygia, and variable skeletal fusions syndrome 1B, OMIM #618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.456 | MTPAP | Chirag Patel Classified gene: MTPAP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.456 | MTPAP | Chirag Patel Gene: mtpap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.455 | MTPAP |
Chirag Patel Source Genetic Health Queensland was removed from MTPAP. Source Expert list was added to MTPAP. Mode of inheritance for gene MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTPAP were changed from to ?Spastic ataxia 4, autosomal recessive; OMIM#613672 |
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| Intellectual disability syndromic and non-syndromic v0.454 | MTPAP | Chirag Patel reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Spastic ataxia 4, autosomal recessive, OMIM#613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.454 | MTO1 | Chirag Patel Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.454 | MTO1 | Chirag Patel edited their review of gene: MTO1: Added comment: ID is seen as part of this mitochondrial disorder - >35 families reported; Changed publications: PMID: 26061759, 29331171, 23929671 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.454 | MTO1 |
Chirag Patel Source Genetic Health Queensland was removed from MTO1. Source Expert list was added to MTO1. Mode of inheritance for gene MTO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTO1 were changed from to Combined oxidative phosphorylation deficiency 10; OMIM #614702 Publications for gene MTO1 were changed from PMID: 26061759; 29331171; 23929671 to PMID: 26061759; 29331171; 23929671 |
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| Intellectual disability syndromic and non-syndromic v0.453 | MTO1 | Chirag Patel reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26061759, 29331171; Phenotypes: Combined oxidative phosphorylation deficiency 10, OMIM #614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.453 | MTMR2 | Chirag Patel Classified gene: MTMR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.453 | MTMR2 | Chirag Patel Gene: mtmr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.452 | MTMR2 |
Chirag Patel Source Genetic Health Queensland was removed from MTMR2. Source Expert list was added to MTMR2. Mode of inheritance for gene MTMR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTMR2 were changed from to Charcot-Marie-Tooth disease, type 4B1; OMIM #601382 |
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| Intellectual disability syndromic and non-syndromic v0.451 | MTMR2 | Chirag Patel reviewed gene: MTMR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4B1, OMIM #601382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.451 | IFT140 | Zornitza Stark Marked gene: IFT140 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.451 | IFT140 | Zornitza Stark Gene: ift140 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.451 | IFT140 | Zornitza Stark Phenotypes for gene: IFT140 were changed from to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.450 | IFT140 | Zornitza Stark Classified gene: IFT140 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.450 | IFT140 | Zornitza Stark Gene: ift140 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.449 | IFT140 | Zornitza Stark reviewed gene: IFT140: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM#266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.449 | MSH6 |
Chirag Patel Source Genetic Health Queensland was removed from MSH6. Source Expert list was added to MSH6. Mode of inheritance for gene MSH6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MSH6 were changed from to Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350; Mismatch repair cancer syndrome, OMIM #276300 |
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| Intellectual disability syndromic and non-syndromic v0.448 | MSH6 | Chirag Patel Classified gene: MSH6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.448 | MSH6 | Chirag Patel Gene: msh6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.447 | MSH6 | Chirag Patel reviewed gene: MSH6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Colorectal cancer, hereditary nonpolyposis, type 5, OMIM #614350, Mismatch repair cancer syndrome, OMIM #276300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.447 | MTM1 | Chirag Patel Classified gene: MTM1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.447 | MTM1 | Chirag Patel Gene: mtm1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.446 | MTM1 |
Chirag Patel Source Genetic Health Queensland was removed from MTM1. Source Expert list was added to MTM1. Mode of inheritance for gene MTM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MTM1 were changed from to Myotubular myopathy, X-linked; OMIM#310400 |
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| Intellectual disability syndromic and non-syndromic v0.445 | MTM1 | Chirag Patel reviewed gene: MTM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotubular myopathy, X-linked, OMIM#310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.445 | MRPS16 | Chirag Patel Classified gene: MRPS16 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.445 | MRPS16 | Chirag Patel Gene: mrps16 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.445 | MRPS16 | Chirag Patel Classified gene: MRPS16 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.445 | MRPS16 | Chirag Patel Gene: mrps16 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.444 | MRPS16 |
Chirag Patel Source Genetic Health Queensland was removed from MRPS16. Source Expert list was added to MRPS16. Mode of inheritance for gene MRPS16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS16 were changed from to Combined oxidative phosphorylation deficiency 2; OMIM #610498 Publications for gene MRPS16 were changed from PubMed: 15505824 to PubMed: 15505824 |
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| Intellectual disability syndromic and non-syndromic v0.443 | MRPS16 | Chirag Patel reviewed gene: MRPS16: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 15505824; Phenotypes: Combined oxidative phosphorylation deficiency 2, OMIM #610498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.443 | MRPL3 | Chirag Patel Classified gene: MRPL3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.443 | MRPL3 | Chirag Patel Gene: mrpl3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.442 | MRPL3 |
Chirag Patel Source Genetic Health Queensland was removed from MRPL3. Source Expert list was added to MRPL3. Mode of inheritance for gene MRPL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPL3 were changed from to Combined oxidative phosphorylation deficiency 9; OMIM #614582 Publications for gene MRPL3 were changed from PubMed: 27815843; 21786366 to PubMed: 27815843; 21786366 |
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| Intellectual disability syndromic and non-syndromic v0.441 | MRPL3 | Chirag Patel reviewed gene: MRPL3: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 27815843, 21786366; Phenotypes: Combined oxidative phosphorylation deficiency 9, OMIM #614582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.441 | MRAP | Chirag Patel Classified gene: MRAP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.441 | MRAP | Chirag Patel Gene: mrap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.440 | MRAP |
Chirag Patel Source Genetic Health Queensland was removed from MRAP. Source Expert list was added to MRAP. Mode of inheritance for gene MRAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRAP were changed from to Glucocorticoid deficiency 2; OMIM #607398 |
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| Intellectual disability syndromic and non-syndromic v0.439 | MRAP | Chirag Patel reviewed gene: MRAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucocorticoid deficiency 2, OMIM #607398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.439 | MPV17 |
Chirag Patel Source Genetic Health Queensland was removed from MPV17. Source Expert list was added to MPV17. Mode of inheritance for gene MPV17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPV17 were changed from to Charcot-Marie-Tooth disease, axonal, type 2EE, OMIM #618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810 Publications for gene MPV17 were changed from PMID: 22593919 to PMID: 22593919 |
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| Intellectual disability syndromic and non-syndromic v0.438 | MPV17 | Chirag Patel reviewed gene: MPV17: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22593919; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2EE, OMIM #618400, Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.438 | IBA57 | Zornitza Stark Marked gene: IBA57 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.438 | IBA57 | Zornitza Stark Gene: iba57 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.438 | IBA57 | Zornitza Stark Phenotypes for gene: IBA57 were changed from to Multiple mitochondrial dysfunctions syndrome 3, MIM#615330 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.437 | IBA57 | Zornitza Stark Mode of inheritance for gene: IBA57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.436 | IBA57 | Zornitza Stark reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple mitochondrial dysfunctions syndrome 3, MIM#615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.436 | MPZ | Chirag Patel Classified gene: MPZ as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.436 | MPZ | Chirag Patel Gene: mpz has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.435 | MPZ |
Chirag Patel Source Genetic Health Queensland was removed from MPZ. Source Expert list was added to MPZ. Mode of inheritance for gene MPZ was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: MPZ were changed from to Various CMT types |
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| Intellectual disability syndromic and non-syndromic v0.434 | MPZ | Chirag Patel reviewed gene: MPZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Various CMT types; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.434 | MPDZ | Chirag Patel Publications for gene MPDZ were changed from PubMed: 28556411; 23240096 to PubMed: 28556411; 23240096 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.433 | MPDZ |
Chirag Patel Source Genetic Health Queensland was removed from MPDZ. Source Expert list was added to MPDZ. Mode of inheritance for gene MPDZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPDZ were changed from to Hydrocephalus, congenital, 2, with or without brain or eye anomalies; OMIM #615219 |
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| Intellectual disability syndromic and non-syndromic v0.432 | MPDZ | Chirag Patel reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 28556411, 23240096; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM #615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.432 | MNX1 | Chirag Patel Classified gene: MNX1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.432 | MNX1 | Chirag Patel Gene: mnx1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.431 | MNX1 |
Chirag Patel Source Genetic Health Queensland was removed from MNX1. Source Expert list was added to MNX1. Mode of inheritance for gene MNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MNX1 were changed from to Currarino syndrome; OMIM #176450 |
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| Intellectual disability syndromic and non-syndromic v0.430 | MNX1 | Chirag Patel reviewed gene: MNX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Currarino syndrome, OMIM #176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.430 | MLH1 | Chirag Patel Classified gene: MLH1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.430 | MLH1 | Chirag Patel Gene: mlh1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.429 | MLH1 |
Chirag Patel Source Genetic Health Queensland was removed from MLH1. Source Expert list was added to MLH1. Mode of inheritance for gene MLH1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MLH1 were changed from to Mismatch repair cancer syndrome, OMIM #276300; Muir-Torre syndrome, OMIM #158320 |
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| Intellectual disability syndromic and non-syndromic v0.428 | MLH1 | Chirag Patel reviewed gene: MLH1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mismatch repair cancer syndrome, OMIM #276300, Muir-Torre syndrome, OMIM #158320; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.428 | MIR17HG |
Chirag Patel Source Genetic Health Queensland was removed from MIR17HG. Source Expert list was added to MIR17HG. Mode of inheritance for gene MIR17HG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MIR17HG were changed from to Feingold syndrome 2; OMIM #614326 Publications for gene MIR17HG were changed from PMID: 25391829; 21892160 to PMID: 25391829; 21892160 |
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| Intellectual disability syndromic and non-syndromic v0.427 | MIR17HG | Chirag Patel reviewed gene: MIR17HG: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25391829, 21892160; Phenotypes: Feingold syndrome 2, OMIM #614326; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.427 | MID2 | Chirag Patel Classified gene: MID2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.427 | MID2 | Chirag Patel Gene: mid2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.426 | MID2 |
Chirag Patel Source Genetic Health Queensland was removed from MID2. Source Expert list was added to MID2. Mode of inheritance for gene MID2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MID2 were changed from to ?Mental retardation, X-linked 101; OMIM#300928 Publications for gene MID2 were changed from PubMed: 24115387 to PubMed: 24115387 |
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| Intellectual disability syndromic and non-syndromic v0.425 | MID2 | Chirag Patel reviewed gene: MID2: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 24115387; Phenotypes: ?Mental retardation, X-linked 101, OMIM#300928; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.425 | MGP | Chirag Patel Classified gene: MGP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.425 | MGP | Chirag Patel Gene: mgp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.424 | MGP |
Chirag Patel Source Genetic Health Queensland was removed from MGP. Source Expert list was added to MGP. Mode of inheritance for gene MGP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MGP were changed from to Keutel syndrome; OMIM #245150 |
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| Intellectual disability syndromic and non-syndromic v0.423 | MGP | Chirag Patel reviewed gene: MGP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Keutel syndrome, OMIM #245150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.423 | MGME1 | Chirag Patel Classified gene: MGME1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.423 | MGME1 | Chirag Patel Gene: mgme1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.422 | MGME1 |
Chirag Patel Source Genetic Health Queensland was removed from MGME1. Source Expert list was added to MGME1. Mode of inheritance for gene MGME1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MGME1 were changed from to Mitochondrial DNA depletion syndrome 11; OMIM#615084 Publications for gene MGME1 were changed from PubMed: 23313956 to PubMed: 23313956 |
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| Intellectual disability syndromic and non-syndromic v0.421 | MGME1 | Chirag Patel reviewed gene: MGME1: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 23313956; Phenotypes: Mitochondrial DNA depletion syndrome 11, OMIM#615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.421 | MFN2 | Chirag Patel Classified gene: MFN2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.421 | MFN2 | Chirag Patel Gene: mfn2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.420 | MFN2 |
Chirag Patel Source Genetic Health Queensland was removed from MFN2. Source Expert list was added to MFN2. Mode of inheritance for gene MFN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MFN2 were changed from to Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087; Hereditary motor and sensory neuropathy VIA, OMIM #601152 |
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| Intellectual disability syndromic and non-syndromic v0.419 | MFN2 | Chirag Patel reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087, Hereditary motor and sensory neuropathy VIA, OMIM #601152; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.419 | METTL23 |
Chirag Patel Source Genetic Health Queensland was removed from METTL23. Source Expert list was added to METTL23. Mode of inheritance for gene METTL23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: METTL23 were changed from to Mental retardation, autosomal recessive 44; OMIM#615942 Publications for gene METTL23 were changed from PubMed: 24501276; 24626631 to PubMed: 24501276; 24626631 |
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| Intellectual disability syndromic and non-syndromic v0.418 | METTL23 | Chirag Patel reviewed gene: METTL23: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24501276, 24626631; Phenotypes: Mental retardation, autosomal recessive 44, OMIM#615942; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.418 | MET | Chirag Patel Classified gene: MET as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.418 | MET | Chirag Patel Gene: met has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.417 | MET |
Chirag Patel Source Genetic Health Queensland was removed from MET. Source Expert list was added to MET. Mode of inheritance for gene MET was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MET were changed from to ?Deafness, autosomal recessive 97, OMIM #616705; {Osteofibrous dysplasia, susceptibility to}, OMIM #607278 |
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| Intellectual disability syndromic and non-syndromic v0.416 | MET | Chirag Patel reviewed gene: MET: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Deafness, autosomal recessive 97, OMIM #616705, {Osteofibrous dysplasia, susceptibility to}, OMIM #607278; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.416 | MEGF8 |
Chirag Patel Source Genetic Health Queensland was removed from MEGF8. Source Expert list was added to MEGF8. Mode of inheritance for gene MEGF8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEGF8 were changed from to Carpenter syndrome 2; OMIM #614976 |
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| Intellectual disability syndromic and non-syndromic v0.415 | MEGF8 | Chirag Patel reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 3993675; Phenotypes: Carpenter syndrome 2, OMIM #614976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.415 | MCM4 | Chirag Patel Classified gene: MCM4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.415 | MCM4 | Chirag Patel Gene: mcm4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.414 | MCM4 |
Chirag Patel Source Genetic Health Queensland was removed from MCM4. Source Expert list was added to MCM4. Mode of inheritance for gene MCM4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCM4 were changed from to Immunodeficiency 54; OMIM #609981 |
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| Intellectual disability syndromic and non-syndromic v0.413 | MCM4 | Chirag Patel reviewed gene: MCM4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 54, OMIM #609981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.413 | MARS2 | Chirag Patel Classified gene: MARS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.413 | MARS2 | Chirag Patel Gene: mars2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.412 | MARS2 |
Chirag Patel Source Genetic Health Queensland was removed from MARS2. Source Expert list was added to MARS2. Mode of inheritance for gene MARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MARS2 were changed from to ?Combined oxidative phosphorylation deficiency 25, OMIM #616430; Spastic ataxia 3, autosomal recessive, OMIM #611390 Publications for gene MARS2 were changed from PMID: 25754315 to PMID: 25754315 |
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| Intellectual disability syndromic and non-syndromic v0.411 | MARS2 | Chirag Patel reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 25754315; Phenotypes: ?Combined oxidative phosphorylation deficiency 25, OMIM #616430, Spastic ataxia 3, autosomal recessive, OMIM #611390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.411 | HYLS1 | Zornitza Stark Marked gene: HYLS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.411 | HYLS1 | Zornitza Stark Gene: hyls1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.411 | HYLS1 | Zornitza Stark Phenotypes for gene: HYLS1 were changed from to Hydrolethalus syndrome, MIM#236680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.410 | HYLS1 | Zornitza Stark Mode of inheritance for gene: HYLS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.409 | HYLS1 | Zornitza Stark Classified gene: HYLS1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.409 | HYLS1 | Zornitza Stark Gene: hyls1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.408 | HYLS1 | Zornitza Stark reviewed gene: HYLS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrolethalus syndrome, MIM#236680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.408 | HSPG2 | Zornitza Stark Marked gene: HSPG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.408 | HSPG2 | Zornitza Stark Gene: hspg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.408 | HSPG2 | Zornitza Stark Phenotypes for gene: HSPG2 were changed from to Schwartz-Jampel syndrome, type 1, MIM#255800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.407 | HSPG2 | Zornitza Stark Mode of inheritance for gene: HSPG2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.406 | HSPG2 | Zornitza Stark reviewed gene: HSPG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schwartz-Jampel syndrome, type 1, MIM#255800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.406 | MAGT1 | Chirag Patel Classified gene: MAGT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.406 | MAGT1 | Chirag Patel Gene: magt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.405 | MAGT1 |
Chirag Patel Source Genetic Health Queensland was removed from MAGT1. Source Expert list was added to MAGT1. Mode of inheritance for gene MAGT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MAGT1 were changed from to Congenital disorder of glycosylation, type Icc, OMIM #301031; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, OMIM #300853 Publications for gene MAGT1 were changed from PMID: 31036665 to PMID: 31036665 |
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| Intellectual disability syndromic and non-syndromic v0.404 | MAGT1 | Chirag Patel reviewed gene: MAGT1: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 31036665; Phenotypes: Congenital disorder of glycosylation, type Icc, OMIM #301031, Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, OMIM #300853; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.404 | HOXD10 | Zornitza Stark Marked gene: HOXD10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.404 | HOXD10 | Zornitza Stark Gene: hoxd10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.404 | HOXD10 | Zornitza Stark Phenotypes for gene: HOXD10 were changed from to Vertical talus, congenital, MIM#192950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.403 | HOXD10 | Zornitza Stark Mode of inheritance for gene: HOXD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.402 | HOXD10 | Zornitza Stark Classified gene: HOXD10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.402 | HOXD10 | Zornitza Stark Gene: hoxd10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.401 | HOXD10 | Zornitza Stark reviewed gene: HOXD10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Vertical talus, congenital, MIM#192950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.401 | ORC4 | Chirag Patel Classified gene: ORC4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.401 | ORC4 | Chirag Patel Gene: orc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.400 | ORC4 |
Chirag Patel Source Genetic Health Queensland was removed from ORC4. Source Expert list was added to ORC4. Mode of inheritance for gene ORC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC4 were changed from to Meier-Gorlin syndrome 2; OMIM #613800 |
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| Intellectual disability syndromic and non-syndromic v0.399 | ORC4 | Chirag Patel reviewed gene: ORC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 2, OMIM #613800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.399 | ORC6 | Chirag Patel Classified gene: ORC6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.399 | ORC6 | Chirag Patel Gene: orc6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.398 | ORC6 |
Chirag Patel Source Genetic Health Queensland was removed from ORC6. Source Expert list was added to ORC6. Mode of inheritance for gene ORC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ORC6 were changed from to Meier-Gorlin syndrome 3; OMIM #613803 |
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| Intellectual disability syndromic and non-syndromic v0.397 | ORC6 | Chirag Patel reviewed gene: ORC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 3, OMIM #613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.397 | HNMT | Zornitza Stark Marked gene: HNMT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.397 | HNMT | Zornitza Stark Gene: hnmt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.397 | HNMT | Zornitza Stark Phenotypes for gene: HNMT were changed from to Mental retardation, autosomal recessive 51, MIM#616739 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.396 | HNMT | Zornitza Stark Publications for gene: HNMT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.395 | HNMT | Zornitza Stark Mode of inheritance for gene: HNMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.394 | HNMT | Zornitza Stark reviewed gene: HNMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 26206890, 30744146; Phenotypes: Mental retardation, autosomal recessive 51, MIM#616739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.394 | VPS37A |
Chirag Patel changed review comment from: ID reported in this type of HSP in 2 families. Zivony-Elboum et al. (2012) reported 9 patients from 2 Arab Moslem families with early-onset spastic paraplegia. Affected individuals showed developmental and motor delay during the first 2 years of life. They had unsteadiness in standing and difficulty walking. All affected children presented with spasticity in the lower limbs that progressed to the upper extremities. All had mild to moderate cognitive and speech delay.; to: ID reported in this type of HSP in 2 families. Zivony-Elboum et al. (2012) reported 9 patients from 2 Arab Moslem families with early-onset spastic paraplegia. Affected individuals showed developmental and motor delay during the first 2 years of life. They had unsteadiness in standing and difficulty walking. All affected children presented with spasticity in the lower limbs that progressed to the upper extremities. All had mild to moderate cognitive and speech delay. Functional studied performed. |
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| Intellectual disability syndromic and non-syndromic v0.394 | HAL | Zornitza Stark Marked gene: HAL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.394 | HAL | Zornitza Stark Gene: hal has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.394 | HAL | Zornitza Stark Phenotypes for gene: HAL were changed from to [Histidinemia], MIM#235800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.393 | HAL | Zornitza Stark Publications for gene: HAL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.392 | HAL | Zornitza Stark Mode of inheritance for gene: HAL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.391 | HAL | Zornitza Stark Classified gene: HAL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.391 | HAL | Zornitza Stark Gene: hal has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.390 | HAL | Zornitza Stark reviewed gene: HAL: Rating: RED; Mode of pathogenicity: None; Publications: 4421298, 7119955; Phenotypes: [Histidinemia], MIM#235800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.390 | UCHL1 | Chirag Patel Classified gene: UCHL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.390 | UCHL1 | Chirag Patel Gene: uchl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.389 | UCHL1 |
Chirag Patel Source Genetic Health Queensland was removed from UCHL1. Source Expert list was added to UCHL1. Mode of inheritance for gene UCHL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UCHL1 were changed from to Spastic paraplegia 79, autosomal recessive; OMIM #615491 |
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| Intellectual disability syndromic and non-syndromic v0.388 | UCHL1 | Chirag Patel reviewed gene: UCHL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 79, autosomal recessive, OMIM #615491; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.388 | UFM1 | Chirag Patel Classified gene: UFM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.388 | UFM1 | Chirag Patel Gene: ufm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.387 | UFM1 | Chirag Patel commented on gene: UFM1: 20 families reported with encephalopathy/ID phenotype with functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.387 | UFM1 |
Chirag Patel gene: UFM1 was added gene: UFM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UFM1 were set to PubMed: 27545674; 27545681; 28931644 Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14; OMIM #617899 Review for gene: UFM1 was set to GREEN Added comment: Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.386 | UGT1A1 | Chirag Patel Classified gene: UGT1A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.386 | UGT1A1 | Chirag Patel Gene: ugt1a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.385 | UGT1A1 |
Chirag Patel Source Genetic Health Queensland was removed from UGT1A1. Source Expert list was added to UGT1A1. Mode of inheritance for gene UGT1A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UGT1A1 were changed from to Crigler-Najjar syndrome, type I, OMIM #218800; Crigler-Najjar syndrome, type II, OMIM #606785 |
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| Intellectual disability syndromic and non-syndromic v0.384 | UGT1A1 | Chirag Patel reviewed gene: UGT1A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Crigler-Najjar syndrome, type I, OMIM #218800, Crigler-Najjar syndrome, type II, OMIM #606785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.384 | UNC13D | Chirag Patel Classified gene: UNC13D as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.384 | UNC13D | Chirag Patel Gene: unc13d has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.383 | UNC13D |
Chirag Patel Source Genetic Health Queensland was removed from UNC13D. Source Expert list was added to UNC13D. Mode of inheritance for gene UNC13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UNC13D were changed from to Hemophagocytic lymphohistiocytosis, familial, 3; OMIM #608898 |
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| Intellectual disability syndromic and non-syndromic v0.382 | UNC13D | Chirag Patel reviewed gene: UNC13D: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3, OMIM #608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.382 | UQCC2 |
Chirag Patel Source Genetic Health Queensland was removed from UQCC2. Source Expert list was added to UQCC2. Mode of inheritance for gene UQCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCC2 were changed from to Mitochondrial complex III deficiency, nuclear type 7; OMIM #615824 Publications for gene UQCC2 were changed from PubMed: 28804536; 24385928 to PubMed: 28804536; 24385928 |
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| Intellectual disability syndromic and non-syndromic v0.381 | UQCC2 | Chirag Patel Classified gene: UQCC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.381 | UQCC2 | Chirag Patel Gene: uqcc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.380 | UQCC2 | Chirag Patel reviewed gene: UQCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 28804536, 24385928; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, OMIM #615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.380 | UQCRB | Chirag Patel Classified gene: UQCRB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.380 | UQCRB | Chirag Patel Gene: uqcrb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.379 | UQCRB |
Chirag Patel Source Genetic Health Queensland was removed from UQCRB. Source Expert list was added to UQCRB. Mode of inheritance for gene UQCRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRB were changed from to Mitochondrial complex III deficiency, nuclear type 3; OMIM #615158 Publications for gene UQCRB were changed from PubMed: 12709789; 28604960 to PubMed: 12709789; 28604960 |
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| Intellectual disability syndromic and non-syndromic v0.378 | UQCRB | Chirag Patel reviewed gene: UQCRB: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 12709789, 28604960; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, OMIM #615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.378 | UQCRC2 |
Chirag Patel Source Genetic Health Queensland was removed from UQCRC2. Source Expert list was added to UQCRC2. Mode of inheritance for gene UQCRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRC2 were changed from to Mitochondrial complex III deficiency, nuclear type 5; OMIM #615160 |
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| Intellectual disability syndromic and non-syndromic v0.377 | UQCRC2 | Chirag Patel Classified gene: UQCRC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.377 | UQCRC2 | Chirag Patel Gene: uqcrc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.376 | UQCRC2 | Chirag Patel reviewed gene: UQCRC2: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 28275242; Phenotypes: Mitochondrial complex III deficiency, nuclear type 5, OMIM #615160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.376 | UQCRQ | Chirag Patel Classified gene: UQCRQ as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.376 | UQCRQ | Chirag Patel Gene: uqcrq has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.375 | UQCRQ |
Chirag Patel Source Genetic Health Queensland was removed from UQCRQ. Source Expert list was added to UQCRQ. Mode of inheritance for gene UQCRQ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRQ were changed from to Mitochondrial complex III deficiency, nuclear type 4; OMIM #615159 Publications for gene UQCRQ were changed from PubMed: 18439546 to PubMed: 18439546 |
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| Intellectual disability syndromic and non-syndromic v0.374 | UQCRQ | Chirag Patel reviewed gene: UQCRQ: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 18439546; Phenotypes: Mitochondrial complex III deficiency, nuclear type 4, OMIM #615159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.374 | VAMP1 | Chirag Patel Classified gene: VAMP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.374 | VAMP1 | Chirag Patel Gene: vamp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.373 | VAMP1 | Chirag Patel reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, OMIM #108600, Myasthenic syndrome, congenital, 25, OMIM #618323; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.373 | VAMP1 |
Chirag Patel Source Genetic Health Queensland was removed from VAMP1. Source Expert list was added to VAMP1. Mode of inheritance for gene VAMP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: VAMP1 were changed from to Spastic ataxia 1, autosomal dominant, OMIM #108600; Myasthenic syndrome, congenital, 25, OMIM #618323 |
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| Intellectual disability syndromic and non-syndromic v0.372 | VANGL1 | Chirag Patel Classified gene: VANGL1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.372 | VANGL1 | Chirag Patel Gene: vangl1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.371 | VANGL1 | Chirag Patel reviewed gene: VANGL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Caudal regression syndrome, OMIM #600145, {Neural tube defects, susceptibility to}, OMIM #182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.371 | VANGL1 |
Chirag Patel Source Genetic Health Queensland was removed from VANGL1. Source Expert list was added to VANGL1. Mode of inheritance for gene VANGL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VANGL1 were changed from to Caudal regression syndrome, OMIM #600145; {Neural tube defects, susceptibility to}, OMIM #182940 |
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| Intellectual disability syndromic and non-syndromic v0.370 | VARS2 |
Chirag Patel Source Genetic Health Queensland was removed from VARS2. Source Expert list was added to VARS2. Mode of inheritance for gene VARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VARS2 were changed from to Combined oxidative phosphorylation deficiency 20; OMIM #615917 Publications for gene VARS2 were changed from PubMed: 24827421; 25058219; 29137650; 29314548; 31064326 to PubMed: 24827421; 25058219; 29137650; 29314548; 31064326 |
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| Intellectual disability syndromic and non-syndromic v0.369 | VARS2 | Chirag Patel Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.369 | VARS2 | Chirag Patel edited their review of gene: VARS2: Added comment: Multiple patients reported with ID, encephalopathy as part of this mitochondrial disorder.; Changed rating: GREEN; Changed publications: PubMed: 24827421, 25058219, 29137650, 29314548, 31064326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.369 | VARS2 | Chirag Patel reviewed gene: VARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 24827421, 25058219,; Phenotypes: Combined oxidative phosphorylation deficiency 20, OMIM #615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.369 | VIPAS39 |
Chirag Patel Source Genetic Health Queensland was removed from VIPAS39. Source Expert list was added to VIPAS39. Mode of inheritance for gene VIPAS39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VIPAS39 were changed from to Arthrogryposis, renal dysfunction, and cholestasis 2; OMIM #613404 Publications for gene VIPAS39 were changed from PMID: 20190753 to PMID: 20190753 |
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| Intellectual disability syndromic and non-syndromic v0.368 | VIPAS39 | Chirag Patel reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 20190753; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM #613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.368 | VPS33B |
Chirag Patel Source Genetic Health Queensland was removed from VPS33B. Source Expert list was added to VPS33B. Mode of inheritance for gene VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1; OMIM #208085 Publications for gene VPS33B were changed from PMID: 31240160; 30561130 to PMID: 31240160; 30561130 |
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| Intellectual disability syndromic and non-syndromic v0.367 | VPS33B | Chirag Patel reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31240160, 30561130; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM #208085; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.367 | VPS37A | Chirag Patel Classified gene: VPS37A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.367 | VPS37A | Chirag Patel Gene: vps37a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.366 | VPS37A |
Chirag Patel Source Genetic Health Queensland was removed from VPS37A. Source Expert list was added to VPS37A. Mode of inheritance for gene VPS37A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS37A were changed from to Spastic paraplegia 53, autosomal recessive; OMIM #614898 Publications for gene VPS37A were changed from PMID: 22717650 to PMID: 22717650 |
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| Intellectual disability syndromic and non-syndromic v0.365 | VPS37A | Chirag Patel reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22717650; Phenotypes: Spastic paraplegia 53, autosomal recessive, OMIM #614898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.365 | VPS45 | Chirag Patel Classified gene: VPS45 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.365 | VPS45 | Chirag Patel Gene: vps45 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.364 | VPS45 |
Chirag Patel Source Genetic Health Queensland was removed from VPS45. Source Expert list was added to VPS45. Mode of inheritance for gene VPS45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS45 were changed from to Neutropenia, severe congenital, 5, autosomal recessive; OMIM #615285 |
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| Intellectual disability syndromic and non-syndromic v0.363 | VPS45 | Chirag Patel reviewed gene: VPS45: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropenia, severe congenital, 5, autosomal recessive, OMIM #615285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.363 | WASF1 | Chirag Patel Classified gene: WASF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.363 | WASF1 | Chirag Patel Gene: wasf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.362 | WASF1 | Chirag Patel edited their review of gene: WASF1: Added comment: 5 unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. Functional studies using fibroblast cells from two affected individuals showed a truncated WASF1 and a defect in actin remodeling.; Changed phenotypes: No OMIM phenotype # yet. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.362 | WASF1 |
Chirag Patel gene: WASF1 was added gene: WASF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: WASF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WASF1 were set to PMID: 29961568 Review for gene: WASF1 was set to GREEN Added comment: Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.361 | WASHC4 | Chirag Patel Classified gene: WASHC4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.361 | WASHC4 | Chirag Patel Gene: washc4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.360 | WASHC4 |
Chirag Patel Source Genetic Health Queensland was removed from WASHC4. Source Expert list was added to WASHC4. Mode of inheritance for gene WASHC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WASHC4 were changed from to ?Mental retardation, autosomal recessive 43; OMIM #615817 Publications for gene WASHC4 were changed from PubMed: 21498477 to PubMed: 21498477 |
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| Intellectual disability syndromic and non-syndromic v0.359 | WASHC4 | Chirag Patel reviewed gene: WASHC4: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 21498477; Phenotypes: ?Mental retardation, autosomal recessive 43, OMIM #615817; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.359 | WASHC5 | Chirag Patel Classified gene: WASHC5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.359 | WASHC5 | Chirag Patel Gene: washc5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.358 | WASHC5 |
Chirag Patel Source Genetic Health Queensland was removed from WASHC5. Source Expert list was added to WASHC5. Mode of inheritance for gene WASHC5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: WASHC5 were changed from to Spastic paraplegia 8, autosomal dominant, OMIM #603563; Ritscher-Schinzel syndrome 1; OMIM #220210 Publications for gene WASHC5 were changed from PubMed: 24065355 to PubMed: 24065355 |
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| Intellectual disability syndromic and non-syndromic v0.357 | WASHC5 | Chirag Patel reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 24065355; Phenotypes: Spastic paraplegia 8, autosomal dominant, OMIM #603563, Ritscher-Schinzel syndrome 1, OMIM #220210; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.357 | WDR11 | Chirag Patel Classified gene: WDR11 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.357 | WDR11 | Chirag Patel Gene: wdr11 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.356 | WDR11 | Chirag Patel reviewed gene: WDR11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 14 with or without anosmia, OMIM #614858; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.356 | WDR13 | Chirag Patel Classified gene: WDR13 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.356 | WDR13 | Chirag Patel Gene: wdr13 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.355 | WDR13 | Chirag Patel reviewed gene: WDR13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.355 | WDR19 | Chirag Patel Classified gene: WDR19 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.355 | WDR19 | Chirag Patel Gene: wdr19 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.355 | WDR19 | Chirag Patel Classified gene: WDR19 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.355 | WDR19 | Chirag Patel Gene: wdr19 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.354 | WDR19 | Chirag Patel reviewed gene: WDR19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Short-rib thoracic dysplasia 5 with or without polydactyly, OMIM #614376, Nephronophthisis 13, OMIM #614377, Senior-Loken syndrome 8, OMIM#616307; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.354 | WDR19 | Chirag Patel Phenotypes for gene: WDR19 were changed from ?Short-rib thoracic dysplasia 5 with or without polydactyly; OMIM #614376; AR 3 Nephronophthisis 13 614377 AR 3 Senior-Loken syndrome 8 616307 to ?Short-rib thoracic dysplasia 5 with or without polydactyly, OMIM #614376; Nephronophthisis 13, OMIM #614377; Senior-Loken syndrome 8, OMIM#616307 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.353 | WDR19 |
Chirag Patel Source Genetic Health Queensland was removed from WDR19. Source Expert list was added to WDR19. Mode of inheritance for gene WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were changed from to ?Short-rib thoracic dysplasia 5 with or without polydactyly; OMIM #614376; AR 3 Nephronophthisis 13 614377 AR 3 Senior-Loken syndrome 8 616307 |
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| Intellectual disability syndromic and non-syndromic v0.352 | WDR34 | Chirag Patel Classified gene: WDR34 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.352 | WDR34 | Chirag Patel Gene: wdr34 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.351 | WDR34 |
Chirag Patel Source Genetic Health Queensland was removed from WDR34. Source Expert list was added to WDR34. Mode of inheritance for gene WDR34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR34 were changed from to Short-rib thoracic dysplasia 11 with or without polydactyly; OMIM #615633 |
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| Intellectual disability syndromic and non-syndromic v0.350 | WDR34 | Chirag Patel reviewed gene: WDR34: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.350 | WDR37 | Chirag Patel Classified gene: WDR37 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.350 | WDR37 | Chirag Patel Gene: wdr37 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.349 | WDR37 | Chirag Patel commented on gene: WDR37: 9 unrelated patients reported, with functional studies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.349 | WDR37 |
Chirag Patel gene: WDR37 was added gene: WDR37 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR37 were set to PubMed: 31327508; 31327510 Phenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome; OMIM #618652 Review for gene: WDR37 was set to GREEN Added comment: Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.348 | WNT1 | Chirag Patel reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 26671912; Phenotypes: Osteogenesis imperfecta, type XV, OMIM# 615220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.348 | WNT1 |
Chirag Patel Source Genetic Health Queensland was removed from WNT1. Source Expert list was added to WNT1. Mode of inheritance for gene WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV; OMIM# 615220 |
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| Intellectual disability syndromic and non-syndromic v0.347 | WNT5A |
Chirag Patel Source Genetic Health Queensland was removed from WNT5A. Source Expert list was added to WNT5A. Mode of inheritance for gene WNT5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: WNT5A were changed from to Robinow syndrome, autosomal dominant 1; OMIM# 180700 |
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| Intellectual disability syndromic and non-syndromic v0.346 | WNT5A | Chirag Patel reviewed gene: WNT5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal dominant 1, OMIM# 180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.346 | WNT5A | Chirag Patel Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.346 | WNT5A | Chirag Patel reviewed gene: WNT5A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal dominant 1, OMIM# 180700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.346 | WRAP53 | Chirag Patel Mode of inheritance for gene WRAP53 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.345 | WRAP53 |
Chirag Patel Source Genetic Health Queensland was removed from WRAP53. Source Expert list was added to WRAP53. Phenotypes for gene: WRAP53 were changed from to Dyskeratosis congenita, autosomal recessive 3; OMIM# 613988 |
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| Intellectual disability syndromic and non-syndromic v0.344 | WRAP53 | Chirag Patel Classified gene: WRAP53 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.344 | WRAP53 | Chirag Patel Gene: wrap53 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.343 | WRAP53 | Chirag Patel reviewed gene: WRAP53: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, OMIM# 613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.343 | HADHB | Zornitza Stark Marked gene: HADHB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.343 | HADHB | Zornitza Stark Gene: hadhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.343 | HADHB | Zornitza Stark Phenotypes for gene: HADHB were changed from to Trifunctional protein deficiency, MIM#609015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.342 | HADHB | Zornitza Stark Mode of inheritance for gene: HADHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.341 | HADHB | Zornitza Stark reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Trifunctional protein deficiency, MIM#609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.341 | HADH | Zornitza Stark Marked gene: HADH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.341 | HADH | Zornitza Stark Gene: hadh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.341 | HADH | Zornitza Stark Phenotypes for gene: HADH were changed from to 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530; Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.340 | HADH | Zornitza Stark Mode of inheritance for gene: HADH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.339 | HADH | Zornitza Stark Classified gene: HADH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.339 | HADH | Zornitza Stark Gene: hadh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.338 | HADH | Zornitza Stark reviewed gene: HADH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM#231530, Hyperinsulinemic hypoglycemia, familial, 4, MIM#609975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.338 | H3F3B | Zornitza Stark Marked gene: H3F3B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.338 | H3F3B | Zornitza Stark Gene: h3f3b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.338 | H3F3B | Zornitza Stark Classified gene: H3F3B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.338 | H3F3B | Zornitza Stark Gene: h3f3b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.337 | H19 | Zornitza Stark Marked gene: H19 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.337 | H19 | Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.337 | H19 | Zornitza Stark Phenotypes for gene: H19 were changed from to Beckwith-Wiedemann syndrome, MIM#130650; Silver-Russell syndrome, MIM#180860 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.336 | H19 | Zornitza Stark Classified gene: H19 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.336 | H19 | Zornitza Stark Gene: h19 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.335 | H19 | Zornitza Stark reviewed gene: H19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Beckwith-Wiedemann syndrome, MIM#130650, Silver-Russell syndrome, MIM#180860; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.335 | GYS2 | Zornitza Stark Marked gene: GYS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.335 | GYS2 | Zornitza Stark Gene: gys2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.335 | GYS2 | Zornitza Stark Phenotypes for gene: GYS2 were changed from to Glycogen storage disease 0, liver, MIM#240600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.334 | GYS2 | Zornitza Stark Mode of inheritance for gene: GYS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.333 | GYS2 | Zornitza Stark Classified gene: GYS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.333 | GYS2 | Zornitza Stark Gene: gys2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.332 | GYS2 | Zornitza Stark reviewed gene: GYS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease 0, liver, MIM#240600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.332 | GTF2IRD1 | Zornitza Stark Marked gene: GTF2IRD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.332 | GTF2IRD1 | Zornitza Stark Gene: gtf2ird1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.332 | GTF2IRD1 | Zornitza Stark Publications for gene: GTF2IRD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.331 | GTF2IRD1 | Zornitza Stark Classified gene: GTF2IRD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.331 | GTF2IRD1 | Zornitza Stark Gene: gtf2ird1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.330 | GTF2IRD1 | Zornitza Stark reviewed gene: GTF2IRD1: Rating: RED; Mode of pathogenicity: None; Publications: 31418010; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.330 | GTF2I | Zornitza Stark Marked gene: GTF2I as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.330 | GTF2I | Zornitza Stark Gene: gtf2i has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.330 | GTF2I | Zornitza Stark Classified gene: GTF2I as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.330 | GTF2I | Zornitza Stark Gene: gtf2i has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.329 | GTF2I | Zornitza Stark reviewed gene: GTF2I: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.329 | GSPT2 | Zornitza Stark Marked gene: GSPT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.329 | GSPT2 | Zornitza Stark Gene: gspt2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.329 | GSPT2 | Zornitza Stark Publications for gene: GSPT2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.328 | GSPT2 | Zornitza Stark Classified gene: GSPT2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.328 | GSPT2 | Zornitza Stark Gene: gspt2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.327 | GSPT2 | Zornitza Stark reviewed gene: GSPT2: Rating: RED; Mode of pathogenicity: None; Publications: 28414775; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.327 | GRPR | Zornitza Stark Marked gene: GRPR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.327 | GRPR | Zornitza Stark Gene: grpr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.327 | GRPR | Zornitza Stark Classified gene: GRPR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.327 | GRPR | Zornitza Stark Gene: grpr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.326 | GRPR | Zornitza Stark reviewed gene: GRPR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.326 | GPSM2 | Zornitza Stark Marked gene: GPSM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.326 | GPSM2 | Zornitza Stark Gene: gpsm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.326 | GPSM2 | Zornitza Stark Phenotypes for gene: GPSM2 were changed from to Chudley-McCullough syndrome, MIM#604213 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.325 | GPSM2 | Zornitza Stark Classified gene: GPSM2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.325 | GPSM2 | Zornitza Stark Gene: gpsm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.324 | GPSM2 | Zornitza Stark reviewed gene: GPSM2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chudley-McCullough syndrome, MIM#604213; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.324 | GPHN | Zornitza Stark Marked gene: GPHN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.324 | GPHN | Zornitza Stark Gene: gphn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.324 | GPHN | Zornitza Stark Phenotypes for gene: GPHN were changed from to Molybdenum cofactor deficiency C, MIM#615501 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.323 | GPHN | Zornitza Stark Mode of inheritance for gene: GPHN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.322 | GPHN | Zornitza Stark reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Molybdenum cofactor deficiency C, MIM#615501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.322 | GOSR2 | Zornitza Stark Marked gene: GOSR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.322 | GOSR2 | Zornitza Stark Gene: gosr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.322 | GOSR2 | Zornitza Stark Phenotypes for gene: GOSR2 were changed from to Epilepsy, progressive myoclonic 6, MIM#614018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.321 | GOSR2 | Zornitza Stark Mode of inheritance for gene: GOSR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.320 | GOSR2 | Zornitza Stark Classified gene: GOSR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.320 | GOSR2 | Zornitza Stark Gene: gosr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.319 | GOSR2 | Zornitza Stark reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 6, MIM#614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.319 | GORAB | Zornitza Stark Marked gene: GORAB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.319 | GORAB | Zornitza Stark Gene: gorab has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.319 | GORAB | Zornitza Stark Phenotypes for gene: GORAB were changed from to Geroderma osteodysplasticum, MIM#231070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.318 | GORAB | Zornitza Stark Mode of inheritance for gene: GORAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.317 | GORAB | Zornitza Stark reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Geroderma osteodysplasticum, MIM#231070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.317 | GNE | Zornitza Stark Marked gene: GNE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.317 | GNE | Zornitza Stark Gene: gne has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.317 | GNE | Zornitza Stark Phenotypes for gene: GNE were changed from to Sialuria, MIM#269921 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.316 | GNE | Zornitza Stark Mode of inheritance for gene: GNE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.315 | GNE | Zornitza Stark reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialuria, MIM#269921; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.315 | ZNF462 | Chirag Patel Classified gene: ZNF462 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.315 | ZNF462 | Chirag Patel Gene: znf462 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.314 | ZNF462 |
Chirag Patel gene: ZNF462 was added gene: ZNF462 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: ZNF462 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZNF462 were set to PubMed: 31361404; 28513610 Phenotypes for gene: ZNF462 were set to Weiss-Kruszka syndrome; OMIM# 618619 Review for gene: ZNF462 was set to GREEN Added comment: Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.313 | XPA |
Chirag Patel Source Genetic Health Queensland was removed from XPA. Source Expert list was added to XPA. Mode of inheritance for gene XPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPA were changed from to Xeroderma pigmentosum, group A; OMIM# 278700 |
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| Intellectual disability syndromic and non-syndromic v0.312 | XPA | Chirag Patel reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group A, OMIM# 278700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.312 | XYLT1 |
Chirag Patel Source Genetic Health Queensland was removed from XYLT1. Source Expert list was added to XYLT1. Mode of inheritance for gene XYLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XYLT1 were changed from to Desbuquois dysplasia 2; OMIM# 615777 Publications for gene XYLT1 were changed from PubMed: 24581741; 22711505; 23982343 to PubMed: 24581741; 22711505; 23982343 |
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| Intellectual disability syndromic and non-syndromic v0.311 | XYLT1 | Chirag Patel reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 24581741, 22711505, 23982343; Phenotypes: Desbuquois dysplasia 2, OMIM# 615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.311 | ZC3H14 | Chirag Patel Classified gene: ZC3H14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.311 | ZC3H14 | Chirag Patel Gene: zc3h14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.310 | ZC3H14 |
Chirag Patel Source Genetic Health Queensland was removed from ZC3H14. Source Expert list was added to ZC3H14. Mode of inheritance for gene ZC3H14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZC3H14 were changed from to Mental retardation, autosomal recessive 56; OMIM# 617125 Publications for gene ZC3H14 were changed from PubMed: 21734151 to PubMed: 21734151 |
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| Intellectual disability syndromic and non-syndromic v0.309 | ZC3H14 | Chirag Patel reviewed gene: ZC3H14: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 21734151; Phenotypes: Mental retardation, autosomal recessive 56, OMIM# 617125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.309 | ZCCHC12 | Chirag Patel Classified gene: ZCCHC12 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.309 | ZCCHC12 | Chirag Patel Gene: zcchc12 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.308 | ZCCHC12 | Chirag Patel reviewed gene: ZCCHC12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.308 | ZDHHC15 | Chirag Patel Classified gene: ZDHHC15 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.308 | ZDHHC15 | Chirag Patel Gene: zdhhc15 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.307 | ZDHHC15 | Chirag Patel reviewed gene: ZDHHC15: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.307 | ZFP57 | Chirag Patel Classified gene: ZFP57 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.307 | ZFP57 | Chirag Patel Gene: zfp57 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.306 | ZFP57 |
Chirag Patel Source Genetic Health Queensland was removed from ZFP57. Source Expert list was added to ZFP57. Mode of inheritance for gene ZFP57 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: ZFP57 were changed from to {Diabetes mellitus, transient neonatal, 1}; OMIM# 601410 |
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| Intellectual disability syndromic and non-syndromic v0.305 | ZFP57 | Chirag Patel reviewed gene: ZFP57: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Diabetes mellitus, transient neonatal, 1}, OMIM# 601410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.305 | ZMYM3 | Chirag Patel Classified gene: ZMYM3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.305 | ZMYM3 | Chirag Patel Gene: zmym3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.304 | ZMYM3 | Chirag Patel reviewed gene: ZMYM3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24721225; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.304 | ZNF335 | Chirag Patel Publications for gene ZNF335 were changed from PubMed: 23178126; 27540107; 29652087 to PubMed: 23178126; 27540107; 29652087 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.303 | ZNF335 |
Chirag Patel Source Genetic Health Queensland was removed from ZNF335. Source Expert list was added to ZNF335. Mode of inheritance for gene ZNF335 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZNF335 were changed from to Microcephaly 10, primary, autosomal recessive; OMIM #615095 |
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| Intellectual disability syndromic and non-syndromic v0.302 | ZNF335 | Chirag Patel reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 23178126, 27540107, 29652087; Phenotypes: Microcephaly 10, primary, autosomal recessive, OMIM #615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.302 | ZNF41 | Chirag Patel changed review comment from: Shoichet et al. (2003) described a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21) in whom they cloned the DNA fragment that contained the X chromosomal and the autosomal breakpoint. In silico sequence analysis demonstrated that the ZNF41 gene was disrupted. Expression studies indicated that ZNF41 transcripts were absent in the patient cell line, suggesting that the mental disorder in this patient resulted from loss of functional ZNF41. Moreover, screening of a panel of patients with MRX led to the identification of 2 other ZNF41 mutations (314995.0001-314995.0002) that were not found in healthy control individuals. Based on their finding of the mutations in ZNF41 identified by Shoichet et al. (2003) in a total of 7 males in the NHLBI Exome Variant Server, and the additional finding of truncating ZNF41 variants in 1 male and 1 female in that database, Piton et al. (2013) classified the involvement of ZNF41 in mental retardation as highly questionable.; to: Shoichet et al. (2003) described a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21) in whom they cloned the DNA fragment that contained the X chromosomal and the autosomal breakpoint. In silico sequence analysis demonstrated that the ZNF41 gene was disrupted. Expression studies indicated that ZNF41 transcripts were absent in the patient cell line, suggesting that the mental disorder in this patient resulted from loss of functional ZNF41. Screening of patients with mental retardation led to the identification of 2 other ZNF41 mutations that were not found in healthy control individuals. Based on their finding of the mutations in ZNF41 identified by Shoichet et al. (2003) in a total of 7 males in the NHLBI Exome Variant Server, and the additional finding of truncating ZNF41 variants in 1 male and 1 female in that database, Piton et al. (2013) classified the involvement of ZNF41 in mental retardation as highly questionable. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.302 | ZNF41 | Chirag Patel reviewed gene: ZNF41: Rating: RED; Mode of pathogenicity: None; Publications: PubMed: 14628291, 23871722; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.302 | ZNF41 | Chirag Patel Classified gene: ZNF41 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.302 | ZNF41 | Chirag Patel Gene: znf41 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.301 | ZNF423 | Chirag Patel Marked gene: ZNF423 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.301 | ZNF423 | Chirag Patel Gene: znf423 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.301 | ZNF423 | Chirag Patel Classified gene: ZNF423 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.301 | ZNF423 | Chirag Patel Gene: znf423 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.300 | ZNF423 |
Chirag Patel Source Genetic Health Queensland was removed from ZNF423. Source Expert list was added to ZNF423. Mode of inheritance for gene ZNF423 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19, OMIM# 614844 Publications for gene ZNF423 were changed from PMID: 22863007 to PMID: 22863007 |
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| Intellectual disability syndromic and non-syndromic v0.299 | ZNF423 | Chirag Patel reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 22863007; Phenotypes: Joubert syndrome 19, OMIM# 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.299 | ZNF507 | Chirag Patel Classified gene: ZNF507 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.299 | ZNF507 | Chirag Patel Gene: znf507 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.298 | ZNF507 | Chirag Patel reviewed gene: ZNF507: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.298 | ZNF674 | Chirag Patel Classified gene: ZNF674 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.298 | ZNF674 | Chirag Patel Gene: znf674 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.297 | ZNF674 |
Chirag Patel Source Genetic Health Queensland was removed from ZNF674. Source Expert list was added to ZNF674. Mode of inheritance for gene ZNF674 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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| Intellectual disability syndromic and non-syndromic v0.296 | ZNF674 | Chirag Patel reviewed gene: ZNF674: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 16385466; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.296 | ZNF804A | Chirag Patel Classified gene: ZNF804A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.296 | ZNF804A | Chirag Patel Gene: znf804a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.295 | ZNF804A |
Chirag Patel Source Genetic Health Queensland was removed from ZNF804A. Source Expert list was added to ZNF804A. |
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| Intellectual disability syndromic and non-syndromic v0.294 | ZNF804A | Chirag Patel reviewed gene: ZNF804A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.294 | ZNHIT6 | Chirag Patel Classified gene: ZNHIT6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.294 | ZNHIT6 | Chirag Patel Gene: znhit6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.293 | ZNHIT6 | Chirag Patel reviewed gene: ZNHIT6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.293 | GNAQ | Zornitza Stark Marked gene: GNAQ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.293 | GNAQ | Zornitza Stark Gene: gnaq has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.293 | GNAQ | Zornitza Stark Phenotypes for gene: GNAQ were changed from to Sturge-Weber syndrome, somatic, mosaic, MIM#185300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.292 | GNAQ | Zornitza Stark Classified gene: GNAQ as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.292 | GNAQ | Zornitza Stark Gene: gnaq has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.291 | GNAQ | Zornitza Stark reviewed gene: GNAQ: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Sturge-Weber syndrome, somatic, mosaic, MIM#185300; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.291 | GNA14 | Zornitza Stark Marked gene: GNA14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.291 | GNA14 | Zornitza Stark Gene: gna14 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.291 | GNA14 | Zornitza Stark Classified gene: GNA14 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.291 | GNA14 | Zornitza Stark Gene: gna14 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.290 | GNA14 | Zornitza Stark reviewed gene: GNA14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.290 | GLUD1 | Zornitza Stark Marked gene: GLUD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.290 | GLUD1 | Zornitza Stark Gene: glud1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.290 | GLUD1 | Zornitza Stark Phenotypes for gene: GLUD1 were changed from to Hyperinsulinism-hyperammonemia syndrome, MIM#606762 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.289 | GLUD1 | Zornitza Stark Mode of inheritance for gene: GLUD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.288 | GLUD1 | Zornitza Stark Classified gene: GLUD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.288 | GLUD1 | Zornitza Stark Gene: glud1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.287 | GLUD1 | Zornitza Stark reviewed gene: GLUD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, MIM#606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.287 | GLIS3 | Zornitza Stark Marked gene: GLIS3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.287 | GLIS3 | Zornitza Stark Gene: glis3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.287 | GLIS3 | Zornitza Stark Phenotypes for gene: GLIS3 were changed from to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.286 | GLIS3 | Zornitza Stark Publications for gene: GLIS3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.285 | GLIS3 | Zornitza Stark Mode of inheritance for gene: GLIS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.284 | GLIS3 | Zornitza Stark reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21139041; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.284 | GJB1 | Zornitza Stark Marked gene: GJB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.284 | GJB1 | Zornitza Stark Gene: gjb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.284 | GJB1 | Zornitza Stark Phenotypes for gene: GJB1 were changed from to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.283 | GJB1 | Zornitza Stark Classified gene: GJB1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.283 | GJB1 | Zornitza Stark Gene: gjb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.282 | GJB1 | Zornitza Stark reviewed gene: GJB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.282 | GJA1 | Zornitza Stark Marked gene: GJA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.282 | GJA1 | Zornitza Stark Gene: gja1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.282 | GJA1 | Zornitza Stark Phenotypes for gene: GJA1 were changed from to Atrioventricular septal defect 3, MIM#600309; Craniometaphyseal dysplasia, autosomal recessive, MIM#218400; Erythrokeratodermia variabilis et progressiva 3, MIM#617525; Hypoplastic left heart syndrome 1, MIM#241550; Oculodentodigital dysplasia, MIM#164200; Oculodentodigital dysplasia, autosomal recessive, MIM#257850; Palmoplantar keratoderma with congenital alopecia, MIM#104100; Syndactyly, type III, MIM# 186100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.281 | GJA1 | Zornitza Stark Mode of inheritance for gene: GJA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.280 | GJA1 | Zornitza Stark Classified gene: GJA1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.280 | GJA1 | Zornitza Stark Gene: gja1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.279 | GJA1 | Zornitza Stark reviewed gene: GJA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrioventricular septal defect 3, MIM#600309, Craniometaphyseal dysplasia, autosomal recessive, MIM#218400, Erythrokeratodermia variabilis et progressiva 3, MIM#617525, Hypoplastic left heart syndrome 1, MIM#241550, Oculodentodigital dysplasia, MIM#164200, Oculodentodigital dysplasia, autosomal recessive, MIM#257850, Palmoplantar keratoderma with congenital alopecia, MIM#104100, Syndactyly, type III, MIM# 186100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.279 | GHR | Zornitza Stark Marked gene: GHR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.279 | GHR | Zornitza Stark Gene: ghr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.279 | GHR | Zornitza Stark Phenotypes for gene: GHR were changed from to Growth hormone insensitivity, partial, MIM#604271; Laron dwarfism, MIM#262500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.278 | GHR | Zornitza Stark Mode of inheritance for gene: GHR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.277 | GHR | Zornitza Stark Classified gene: GHR as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.277 | GHR | Zornitza Stark Gene: ghr has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.276 | GHR | Zornitza Stark reviewed gene: GHR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Growth hormone insensitivity, partial, MIM#604271, Laron dwarfism, MIM#262500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.276 | GCSH | Zornitza Stark Marked gene: GCSH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.276 | GCSH | Zornitza Stark Gene: gcsh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.276 | GCSH | Zornitza Stark Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM#605899 to Glycine encephalopathy, MIM#605899 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.275 | GCSH | Zornitza Stark Phenotypes for gene: GCSH were changed from to Glycine encephalopathy, MIM#605899 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.274 | GCSH | Zornitza Stark Publications for gene: GCSH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.273 | GCSH | Zornitza Stark Classified gene: GCSH as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.273 | GCSH | Zornitza Stark Gene: gcsh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.272 | GCSH | Zornitza Stark reviewed gene: GCSH: Rating: RED; Mode of pathogenicity: None; Publications: 1671321; Phenotypes: Glycine encephalopathy, MIM#605899; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.272 | GCK | Zornitza Stark Marked gene: GCK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.272 | GCK | Zornitza Stark Gene: gck has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.272 | GCK | Zornitza Stark Phenotypes for gene: GCK were changed from to Diabetes mellitus, permanent neonatal 606176 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.271 | GCK | Zornitza Stark Mode of inheritance for gene: GCK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.270 | GCK | Zornitza Stark Classified gene: GCK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.270 | GCK | Zornitza Stark Gene: gck has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.269 | GCK | Zornitza Stark reviewed gene: GCK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, permanent neonatal 606176; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.269 | GBE1 | Zornitza Stark Marked gene: GBE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.269 | GBE1 | Zornitza Stark Gene: gbe1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.269 | GBE1 | Zornitza Stark Phenotypes for gene: GBE1 were changed from to Glycogen storage disease IV, MIM#232500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.268 | GBE1 | Zornitza Stark Mode of inheritance for gene: GBE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.267 | GBE1 | Zornitza Stark Classified gene: GBE1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.267 | GBE1 | Zornitza Stark Gene: gbe1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.266 | GBE1 | Zornitza Stark reviewed gene: GBE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IV, MIM#232500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.266 | GBA2 | Zornitza Stark Marked gene: GBA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.266 | GBA2 | Zornitza Stark Gene: gba2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.266 | GBA2 | Zornitza Stark Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, MIM#614409 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.265 | GBA2 | Zornitza Stark Mode of inheritance for gene: GBA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.264 | GBA2 | Zornitza Stark Classified gene: GBA2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.264 | GBA2 | Zornitza Stark Gene: gba2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.263 | GBA2 | Zornitza Stark reviewed gene: GBA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM#614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.263 | GATA6 | Zornitza Stark Marked gene: GATA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.263 | GATA6 | Zornitza Stark Gene: gata6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.263 | GATA6 | Zornitza Stark Phenotypes for gene: GATA6 were changed from to Pancreatic agenesis and congenital heart defects, MIM#600001 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.262 | GATA6 | Zornitza Stark Publications for gene: GATA6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.261 | GATA6 | Zornitza Stark Mode of inheritance for gene: GATA6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.260 | GATA6 | Zornitza Stark reviewed gene: GATA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22158542; Phenotypes: Pancreatic agenesis and congenital heart defects, MIM#600001; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.260 | GATA1 | Zornitza Stark Marked gene: GATA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.260 | GATA1 | Zornitza Stark Gene: gata1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.260 | GATA1 | Zornitza Stark Mode of inheritance for gene: GATA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.259 | GATA1 | Zornitza Stark Classified gene: GATA1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.259 | GATA1 | Zornitza Stark Gene: gata1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.258 | GATA1 | Zornitza Stark reviewed gene: GATA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM#300367, Thrombocytopenia with beta-thalassemia, X-linked, MIM#314050, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM#300835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.258 | GALT | Zornitza Stark Marked gene: GALT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.258 | GALT | Zornitza Stark Gene: galt has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.258 | GALT | Zornitza Stark Phenotypes for gene: GALT were changed from to Galactosemia, MIM#230400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.257 | GALT | Zornitza Stark Mode of inheritance for gene: GALT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.256 | GALT | Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia, MIM#230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.256 | GAD1 | Zornitza Stark Marked gene: GAD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.256 | GAD1 | Zornitza Stark Gene: gad1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.256 | GAD1 | Zornitza Stark Phenotypes for gene: GAD1 were changed from to Cerebral palsy, spastic quadriplegic, 1, MIM#603513 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.255 | GAD1 | Zornitza Stark Publications for gene: GAD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.254 | GAD1 | Zornitza Stark Mode of inheritance for gene: GAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.253 | GAD1 | Zornitza Stark Classified gene: GAD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.253 | GAD1 | Zornitza Stark Gene: gad1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.252 | GAD1 | Zornitza Stark reviewed gene: GAD1: Rating: RED; Mode of pathogenicity: None; Publications: 15571623; Phenotypes: Cerebral palsy, spastic quadriplegic, 1, MIM#603513; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.252 | GABRG1 | Zornitza Stark Marked gene: GABRG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.252 | GABRG1 | Zornitza Stark Gene: gabrg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.252 | GABRG1 | Zornitza Stark Classified gene: GABRG1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.252 | GABRG1 | Zornitza Stark Gene: gabrg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.251 | GABRG1 | Zornitza Stark reviewed gene: GABRG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.251 | FUT8 | Zornitza Stark Marked gene: FUT8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.251 | FUT8 | Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.251 | FUT8 | Zornitza Stark Classified gene: FUT8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.251 | FUT8 | Zornitza Stark Gene: fut8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.250 | FUT8 |
Zornitza Stark gene: FUT8 was added gene: FUT8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUT8 were set to 29304374 Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation 1, MIM#618005 Review for gene: FUT8 was set to GREEN Added comment: Three unrelated individuals reported with bi-allelic variants in this gene. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.249 | FTL | Zornitza Stark Marked gene: FTL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.249 | FTL | Zornitza Stark Gene: ftl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.249 | FTL | Zornitza Stark Phenotypes for gene: FTL were changed from to Neurodegeneration with brain iron accumulation 3, MIM#606159; Hyperferritinemia-cataract syndrome, MIM#600886; L-ferritin deficiency, dominant and recessive, MIM#615604 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.248 | FTL | Zornitza Stark Mode of inheritance for gene: FTL was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.247 | FTL | Zornitza Stark Classified gene: FTL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.247 | FTL | Zornitza Stark Gene: ftl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.246 | FTL | Zornitza Stark reviewed gene: FTL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, MIM#606159, Hyperferritinemia-cataract syndrome, MIM#600886, L-ferritin deficiency, dominant and recessive, MIM#615604; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.246 | FRMPD4 | Zornitza Stark Marked gene: FRMPD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.246 | FRMPD4 | Zornitza Stark Gene: frmpd4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.246 | FRMPD4 | Zornitza Stark Phenotypes for gene: FRMPD4 were changed from to Mental retardation, X-linked 104, MIM#300983 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.245 | FRMPD4 | Zornitza Stark Publications for gene: FRMPD4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.244 | FRMPD4 | Zornitza Stark Mode of inheritance for gene: FRMPD4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.243 | FRMPD4 | Zornitza Stark reviewed gene: FRMPD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25644381, 29267967; Phenotypes: Mental retardation, X-linked 104, MIM#300983; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.243 | FRAS1 | Zornitza Stark Marked gene: FRAS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.243 | FRAS1 | Zornitza Stark Gene: fras1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.243 | FRAS1 | Zornitza Stark Phenotypes for gene: FRAS1 were changed from to Fraser syndrome 1, MIM#219000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.242 | FRAS1 | Zornitza Stark Mode of inheritance for gene: FRAS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.241 | FRAS1 | Zornitza Stark reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fraser syndrome 1, MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.241 | FLVCR1 | Zornitza Stark Marked gene: FLVCR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.241 | FLVCR1 | Zornitza Stark Gene: flvcr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.241 | FLVCR1 | Zornitza Stark Phenotypes for gene: FLVCR1 were changed from to Ataxia, posterior column, with retinitis pigmentosa, MIM#609033 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.240 | FLVCR1 | Zornitza Stark Mode of inheritance for gene: FLVCR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.239 | FLVCR1 | Zornitza Stark Classified gene: FLVCR1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.239 | FLVCR1 | Zornitza Stark Gene: flvcr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.238 | FLVCR1 | Zornitza Stark reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, posterior column, with retinitis pigmentosa, MIM#609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.238 | FLNB | Zornitza Stark Marked gene: FLNB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.238 | FLNB | Zornitza Stark Gene: flnb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.238 | FLNB | Zornitza Stark Phenotypes for gene: FLNB were changed from to Larsen syndrome, MIM#150250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.237 | FLNB | Zornitza Stark Mode of inheritance for gene: FLNB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.236 | FLNB | Zornitza Stark Classified gene: FLNB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.236 | FLNB | Zornitza Stark Gene: flnb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.235 | FLNB | Zornitza Stark reviewed gene: FLNB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Larsen syndrome, MIM#150250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.235 | FGF3 | Zornitza Stark Marked gene: FGF3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.235 | FGF3 | Zornitza Stark Gene: fgf3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.235 | FGF3 | Zornitza Stark Phenotypes for gene: FGF3 were changed from to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.234 | FGF3 | Zornitza Stark Mode of inheritance for gene: FGF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.233 | FGF3 | Zornitza Stark Classified gene: FGF3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.233 | FGF3 | Zornitza Stark Gene: fgf3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.232 | FGF3 | Zornitza Stark reviewed gene: FGF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.232 | FDFT1 | Zornitza Stark Marked gene: FDFT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.232 | FDFT1 | Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.232 | FDFT1 | Zornitza Stark Classified gene: FDFT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.232 | FDFT1 | Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.231 | FDFT1 |
Zornitza Stark gene: FDFT1 was added gene: FDFT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: FDFT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FDFT1 were set to 29909962 Phenotypes for gene: FDFT1 were set to Squalene synthase deficiency, MIM#618156 Review for gene: FDFT1 was set to GREEN Added comment: Three individuals from two unrelated families reported; metabolic disorder with good level of biochemical evidence to support gene-disease association.. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.230 | FBXO31 | Zornitza Stark Marked gene: FBXO31 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.230 | FBXO31 | Zornitza Stark Gene: fbxo31 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.230 | FBXO31 | Zornitza Stark Phenotypes for gene: FBXO31 were changed from to Mental retardation, autosomal recessive 45, MIM#615979 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.229 | FBXO31 | Zornitza Stark Publications for gene: FBXO31 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.228 | FBXO31 | Zornitza Stark Mode of inheritance for gene: FBXO31 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.227 | FBXO31 | Zornitza Stark Classified gene: FBXO31 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.227 | FBXO31 | Zornitza Stark Gene: fbxo31 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.226 | FBXO31 | Zornitza Stark reviewed gene: FBXO31: Rating: RED; Mode of pathogenicity: None; Publications: 24623383; Phenotypes: Mental retardation, autosomal recessive 45, MIM#615979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.226 | FBN1 | Zornitza Stark Marked gene: FBN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.226 | FBN1 | Zornitza Stark Gene: fbn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.226 | FBN1 | Zornitza Stark Phenotypes for gene: FBN1 were changed from to Marfan syndrome, MIM#154700; Geleophysic dysplasia 2, MIM#614185; Weill-Marchesani syndrome 2, dominant, MIM#608328 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.225 | FBN1 | Zornitza Stark Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.224 | FBN1 | Zornitza Stark Classified gene: FBN1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.224 | FBN1 | Zornitza Stark Gene: fbn1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.223 | FBN1 | Zornitza Stark reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM#154700, Geleophysic dysplasia 2, MIM#614185, Weill-Marchesani syndrome 2, dominant, MIM#608328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.223 | FBLN5 | Zornitza Stark Marked gene: FBLN5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.223 | FBLN5 | Zornitza Stark Gene: fbln5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.223 | FBLN5 | Zornitza Stark Phenotypes for gene: FBLN5 were changed from to Cutis laxa, autosomal recessive, type IA, MIM#219100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.222 | FBLN5 | Zornitza Stark Mode of inheritance for gene: FBLN5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.221 | FBLN5 | Zornitza Stark Classified gene: FBLN5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.221 | FBLN5 | Zornitza Stark Gene: fbln5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.220 | FBLN5 | Zornitza Stark reviewed gene: FBLN5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IA, MIM#219100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.220 | FASTKD2 | Zornitza Stark Marked gene: FASTKD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.220 | FASTKD2 | Zornitza Stark Gene: fastkd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.220 | FASTKD2 | Zornitza Stark Phenotypes for gene: FASTKD2 were changed from to Mitochondrial complex IV deficiency, MIM#220110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.219 | FASTKD2 | Zornitza Stark Publications for gene: FASTKD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.218 | FASTKD2 | Zornitza Stark Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.217 | FASTKD2 | Zornitza Stark Classified gene: FASTKD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.217 | FASTKD2 | Zornitza Stark Gene: fastkd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.216 | FASTKD2 | Zornitza Stark reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18771761, 28499982; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.216 | FARS2 | Zornitza Stark Phenotypes for gene: FARS2 were changed from to Combined oxidative phosphorylation deficiency 14, MIM#614946 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.215 | FARS2 | Zornitza Stark Publications for gene: FARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.214 | FARS2 | Zornitza Stark Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.213 | FARS2 | Zornitza Stark reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499341, 22833457; Phenotypes: Combined oxidative phosphorylation deficiency 14, MIM#614946; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.213 | FANCD2 | Zornitza Stark Marked gene: FANCD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.213 | FANCD2 | Zornitza Stark Gene: fancd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.213 | FANCD2 | Zornitza Stark Phenotypes for gene: FANCD2 were changed from to Fanconi anemia, complementation group D2, MIM# 227646 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.212 | FANCD2 | Zornitza Stark Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.211 | FANCD2 | Zornitza Stark reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D2, MIM# 227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.211 | EDNRB | Zornitza Stark Marked gene: EDNRB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.211 | EDNRB | Zornitza Stark Gene: ednrb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.211 | EDNRB | Zornitza Stark Phenotypes for gene: EDNRB were changed from to Waardenburg syndrome, type 4A, MIM#277580 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.210 | EDNRB | Zornitza Stark Mode of inheritance for gene: EDNRB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.209 | EDNRB | Zornitza Stark Classified gene: EDNRB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.209 | EDNRB | Zornitza Stark Gene: ednrb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.208 | FAAH2 | Zornitza Stark Marked gene: FAAH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.208 | FAAH2 | Zornitza Stark Gene: faah2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.208 | FAAH2 | Zornitza Stark Phenotypes for gene: FAAH2 were changed from to Neuropsychiatric disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.207 | FAAH2 | Zornitza Stark Publications for gene: FAAH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.206 | FAAH2 | Zornitza Stark Mode of inheritance for gene: FAAH2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.205 | FAAH2 | Zornitza Stark Classified gene: FAAH2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.205 | FAAH2 | Zornitza Stark Gene: faah2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.204 | FAAH2 | Zornitza Stark reviewed gene: FAAH2: Rating: RED; Mode of pathogenicity: None; Publications: 25885783; Phenotypes: Neuropsychiatric disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.204 | FA2H | Zornitza Stark Marked gene: FA2H as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.204 | FA2H | Zornitza Stark Gene: fa2h has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.204 | FA2H | Zornitza Stark Phenotypes for gene: FA2H were changed from to Spastic paraplegia 35, autosomal recessive, MIM#612319 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.203 | FA2H | Zornitza Stark Mode of inheritance for gene: FA2H was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.202 | FA2H | Zornitza Stark Classified gene: FA2H as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.202 | FA2H | Zornitza Stark Gene: fa2h has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.201 | FA2H | Zornitza Stark reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 35, autosomal recessive, MIM#612319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.201 | EXT2 | Zornitza Stark Marked gene: EXT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.201 | EXT2 | Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.201 | EXT2 | Zornitza Stark Phenotypes for gene: EXT2 were changed from to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.200 | EXT2 | Zornitza Stark Mode of inheritance for gene: EXT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.199 | EXT2 | Zornitza Stark reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Seizures, scoliosis, and macrocephaly syndrome, MIM#616682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.199 | EXOSC8 | Zornitza Stark Marked gene: EXOSC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.199 | EXOSC8 | Zornitza Stark Gene: exosc8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.199 | EXOSC8 | Zornitza Stark Phenotypes for gene: EXOSC8 were changed from to Pontocerebellar hypoplasia, type 1C, MIM#616081 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.198 | EXOSC8 | Zornitza Stark Publications for gene: EXOSC8 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.197 | EXOSC8 | Zornitza Stark Mode of inheritance for gene: EXOSC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.196 | EXOSC8 | Zornitza Stark reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451, 29656927; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM#616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.196 | EXOSC2 | Zornitza Stark Marked gene: EXOSC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.196 | EXOSC2 | Zornitza Stark Gene: exosc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.196 | EXOSC2 | Zornitza Stark Classified gene: EXOSC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.196 | EXOSC2 | Zornitza Stark Gene: exosc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.195 | EXOSC2 |
Zornitza Stark gene: EXOSC2 was added gene: EXOSC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: EXOSC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC2 were set to 26843489; 31628467 Phenotypes for gene: EXOSC2 were set to Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, MIM# 617763 Review for gene: EXOSC2 was set to GREEN Added comment: Three individuals from two families, but founder mutation, some functional data. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.194 | ETFDH | Zornitza Stark Phenotypes for gene: ETFDH were changed from to Glutaric acidemia IIC, MIM#231680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.193 | ETFDH | Zornitza Stark Mode of inheritance for gene: ETFDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.192 | ETFDH | Zornitza Stark reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIC, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.192 | ETFB | Zornitza Stark Marked gene: ETFB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.192 | ETFB | Zornitza Stark Gene: etfb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.192 | ETFB | Zornitza Stark Phenotypes for gene: ETFB were changed from to Glutaric acidemia IIB, MIM#231680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.191 | ETFB | Zornitza Stark Mode of inheritance for gene: ETFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.190 | ETFB | Zornitza Stark reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIB, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.190 | ETFA | Zornitza Stark Phenotypes for gene: ETFA were changed from to Glutaric acidemia IIA, MIM#231680 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.189 | ETFA | Zornitza Stark Mode of inheritance for gene: ETFA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.188 | ETFA | Zornitza Stark reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric acidemia IIA, MIM#231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.188 | EVC2 | Zornitza Stark Marked gene: EVC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.188 | EVC2 | Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.188 | EVC2 | Zornitza Stark Phenotypes for gene: EVC2 were changed from to Ellis-van Creveld syndrome, MIM#225500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.187 | EVC2 | Zornitza Stark Mode of inheritance for gene: EVC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.186 | EVC2 | Zornitza Stark Classified gene: EVC2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.186 | EVC2 | Zornitza Stark Gene: evc2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.185 | EVC2 | Zornitza Stark reviewed gene: EVC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM#225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.185 | EVC | Zornitza Stark Marked gene: EVC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.185 | EVC | Zornitza Stark Gene: evc has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.185 | EVC | Zornitza Stark Phenotypes for gene: EVC were changed from to Ellis-van Creveld syndrome, MIM#225500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.184 | EVC | Zornitza Stark Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.183 | EVC | Zornitza Stark Classified gene: EVC as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.183 | EVC | Zornitza Stark Gene: evc has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.182 | EVC | Zornitza Stark reviewed gene: EVC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ellis-van Creveld syndrome, MIM#225500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.182 | ERMARD | Zornitza Stark Marked gene: ERMARD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.182 | ERMARD | Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.182 | ERMARD | Zornitza Stark Phenotypes for gene: ERMARD were changed from to Periventricular nodular heterotopia 6, MIM#615544 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.181 | ERMARD | Zornitza Stark Publications for gene: ERMARD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.180 | ERMARD | Zornitza Stark Mode of inheritance for gene: ERMARD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.179 | ERMARD | Zornitza Stark Classified gene: ERMARD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.179 | ERMARD | Zornitza Stark Gene: ermard has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.178 | ERMARD | Zornitza Stark reviewed gene: ERMARD: Rating: RED; Mode of pathogenicity: None; Publications: 24056535, 27087860; Phenotypes: Periventricular nodular heterotopia 6, MIM#615544; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.178 | ERLIN2 | Zornitza Stark Phenotypes for gene: ERLIN2 were changed from to Spastic paraplegia 18, autosomal recessive, MIM#611225 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.177 | ERLIN2 | Zornitza Stark Mode of inheritance for gene: ERLIN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.176 | ERLIN2 | Zornitza Stark reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 18, autosomal recessive, MIM#611225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.176 | ERF | Zornitza Stark Marked gene: ERF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.176 | ERF | Zornitza Stark Gene: erf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.176 | ERF | Zornitza Stark Phenotypes for gene: ERF were changed from to Chitayat syndrome, MIM#617180; Craniosynostosis 4, MIM#600775 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.175 | ERF | Zornitza Stark Mode of inheritance for gene: ERF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.174 | ERF | Zornitza Stark Classified gene: ERF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.174 | ERF | Zornitza Stark Gene: erf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.173 | ERF | Zornitza Stark reviewed gene: ERF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Chitayat syndrome, MIM#617180, Craniosynostosis 4, MIM#600775; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.173 | ERCC4 | Zornitza Stark Marked gene: ERCC4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.173 | ERCC4 | Zornitza Stark Gene: ercc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.173 | ERCC4 | Zornitza Stark Phenotypes for gene: ERCC4 were changed from to Xeroderma pigmentosum, group F, MIM#278760; XFE progeroid syndrome, MIM# 610965 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.172 | ERCC4 | Zornitza Stark Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.171 | ERCC4 | Zornitza Stark Classified gene: ERCC4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.171 | ERCC4 | Zornitza Stark Gene: ercc4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.170 | ERCC4 | Zornitza Stark reviewed gene: ERCC4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group F, MIM#278760, XFE progeroid syndrome, MIM# 610965; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.170 | EPM2A | Zornitza Stark Marked gene: EPM2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.170 | EPM2A | Zornitza Stark Gene: epm2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.170 | EPM2A | Zornitza Stark Phenotypes for gene: EPM2A were changed from to Epilepsy, progressive myoclonic 2A (Lafora), MIM#254780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.169 | EPM2A | Zornitza Stark Mode of inheritance for gene: EPM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.168 | EPM2A | Zornitza Stark Classified gene: EPM2A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.168 | EPM2A | Zornitza Stark Gene: epm2a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.167 | EPM2A | Zornitza Stark edited their review of gene: EPM2A: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.167 | EPM2A | Zornitza Stark reviewed gene: EPM2A: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora), MIM#254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.167 | EOMES | Zornitza Stark Marked gene: EOMES as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.167 | EOMES | Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.167 | EOMES | Zornitza Stark Phenotypes for gene: EOMES were changed from to Microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.166 | EOMES | Zornitza Stark Publications for gene: EOMES were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.165 | EOMES | Zornitza Stark Mode of inheritance for gene: EOMES was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.164 | EOMES | Zornitza Stark Classified gene: EOMES as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.164 | EOMES | Zornitza Stark Gene: eomes has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.163 | EOMES | Zornitza Stark reviewed gene: EOMES: Rating: RED; Mode of pathogenicity: None; Publications: 17353897; Phenotypes: Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.163 | EOGT | Zornitza Stark Marked gene: EOGT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.163 | EOGT | Zornitza Stark Gene: eogt has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.163 | EOGT | Zornitza Stark Phenotypes for gene: EOGT were changed from to Adams-Oliver syndrome 4, MIM#615297 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.162 | EOGT | Zornitza Stark Publications for gene: EOGT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.161 | EOGT | Zornitza Stark Mode of inheritance for gene: EOGT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.160 | EOGT | Zornitza Stark Classified gene: EOGT as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.160 | EOGT | Zornitza Stark Gene: eogt has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.159 | EOGT | Zornitza Stark reviewed gene: EOGT: Rating: RED; Mode of pathogenicity: None; Publications: 31368252; Phenotypes: Adams-Oliver syndrome 4, MIM#615297; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.159 | EIF2B5 | Zornitza Stark Phenotypes for gene: EIF2B5 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.158 | EIF2B5 | Zornitza Stark Mode of inheritance for gene: EIF2B5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.157 | EIF2B5 | Zornitza Stark Classified gene: EIF2B5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.157 | EIF2B5 | Zornitza Stark Gene: eif2b5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.156 | EIF2B5 | Zornitza Stark reviewed gene: EIF2B5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.156 | EIF2B4 | Zornitza Stark Marked gene: EIF2B4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.156 | EIF2B4 | Zornitza Stark Gene: eif2b4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.156 | EIF2B4 | Zornitza Stark Phenotypes for gene: EIF2B4 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.155 | EIF2B4 | Zornitza Stark Mode of inheritance for gene: EIF2B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.154 | EIF2B4 | Zornitza Stark Classified gene: EIF2B4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.154 | EIF2B4 | Zornitza Stark Gene: eif2b4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.153 | EIF2B4 | Zornitza Stark reviewed gene: EIF2B4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.153 | EIF2B3 | Zornitza Stark Marked gene: EIF2B3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.153 | EIF2B3 | Zornitza Stark Gene: eif2b3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.153 | EIF2B3 | Zornitza Stark Phenotypes for gene: EIF2B3 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.152 | EIF2B3 | Zornitza Stark Mode of inheritance for gene: EIF2B3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.151 | EIF2B3 | Zornitza Stark Classified gene: EIF2B3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.151 | EIF2B3 | Zornitza Stark Gene: eif2b3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.150 | EIF2B3 | Zornitza Stark reviewed gene: EIF2B3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.150 | EIF2B2 | Zornitza Stark Marked gene: EIF2B2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.150 | EIF2B2 | Zornitza Stark Gene: eif2b2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.150 | EIF2B2 | Zornitza Stark Phenotypes for gene: EIF2B2 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.149 | EIF2B2 | Zornitza Stark Mode of inheritance for gene: EIF2B2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.148 | EIF2B2 | Zornitza Stark Classified gene: EIF2B2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.148 | EIF2B2 | Zornitza Stark Gene: eif2b2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.147 | EIF2B2 | Zornitza Stark reviewed gene: EIF2B2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.147 | EIF2B1 | Zornitza Stark Marked gene: EIF2B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.147 | EIF2B1 | Zornitza Stark Gene: eif2b1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.147 | EIF2B1 | Zornitza Stark Phenotypes for gene: EIF2B1 were changed from to Leukoencephalopathy with vanishing white matter, MIM#603896 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.146 | EIF2B1 | Zornitza Stark Mode of inheritance for gene: EIF2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.145 | EIF2B1 | Zornitza Stark Classified gene: EIF2B1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.145 | EIF2B1 | Zornitza Stark Gene: eif2b1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.144 | EIF2B1 | Zornitza Stark reviewed gene: EIF2B1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, MIM#603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.144 | EFNB2 | Zornitza Stark Marked gene: EFNB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.144 | EFNB2 | Zornitza Stark Gene: efnb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.144 | EFNB2 | Zornitza Stark Phenotypes for gene: EFNB2 were changed from to Intellectual disability and congenital abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.143 | EFNB2 | Zornitza Stark Publications for gene: EFNB2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.142 | EFNB2 | Zornitza Stark Mode of inheritance for gene: EFNB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.141 | EFNB2 | Zornitza Stark Classified gene: EFNB2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.141 | EFNB2 | Zornitza Stark Gene: efnb2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.140 | EFNB2 | Zornitza Stark reviewed gene: EFNB2: Rating: RED; Mode of pathogenicity: None; Publications: 29508392; Phenotypes: Intellectual disability and congenital abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.140 | EDNRB | Zornitza Stark reviewed gene: EDNRB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4A, MIM#277580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.140 | EARS2 | Zornitza Stark Marked gene: EARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.140 | EARS2 | Zornitza Stark Gene: ears2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.140 | EARS2 | Zornitza Stark Phenotypes for gene: EARS2 were changed from to Combined oxidative phosphorylation deficiency 12, MIM#614924 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.139 | EARS2 | Zornitza Stark Publications for gene: EARS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.138 | EARS2 | Zornitza Stark Mode of inheritance for gene: EARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.137 | EARS2 | Zornitza Stark reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22492562; Phenotypes: Combined oxidative phosphorylation deficiency 12, MIM#614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.137 | CLIP2 | Zornitza Stark Marked gene: CLIP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.137 | CLIP2 | Zornitza Stark Gene: clip2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.137 | CLIP2 | Zornitza Stark Phenotypes for gene: CLIP2 were changed from Intellectual disability; SCA to Intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.136 | CLIP2 | Zornitza Stark Phenotypes for gene: CLIP2 were changed from to Intellectual disability; SCA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.135 | CLIP2 | Zornitza Stark Publications for gene: CLIP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.134 | CLIP2 | Zornitza Stark Mode of inheritance for gene: CLIP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.133 | CLIP2 | Zornitza Stark Classified gene: CLIP2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.133 | CLIP2 | Zornitza Stark Gene: clip2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.132 | DYNC2H1 | Zornitza Stark Marked gene: DYNC2H1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.132 | DYNC2H1 | Zornitza Stark Gene: dync2h1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.132 | DYNC2H1 | Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.131 | DYNC2H1 | Zornitza Stark Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.130 | DYNC2H1 | Zornitza Stark Classified gene: DYNC2H1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.130 | DYNC2H1 | Zornitza Stark Gene: dync2h1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.129 | DYNC2H1 | Zornitza Stark reviewed gene: DYNC2H1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.129 | DYM | Zornitza Stark Marked gene: DYM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.129 | DYM | Zornitza Stark Gene: dym has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.129 | DYM | Zornitza Stark Phenotypes for gene: DYM were changed from to Dyggve-Melchior-Clausen disease, MIM#223800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.128 | DYM | Zornitza Stark Mode of inheritance for gene: DYM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.127 | DYM | Zornitza Stark reviewed gene: DYM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyggve-Melchior-Clausen disease, MIM#223800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.127 | DUOXA2 | Zornitza Stark Marked gene: DUOXA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.127 | DUOXA2 | Zornitza Stark Gene: duoxa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.127 | DUOXA2 | Zornitza Stark Phenotypes for gene: DUOXA2 were changed from to Thyroid dyshormonogenesis 5, MIM#274900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.126 | DUOXA2 | Zornitza Stark Mode of inheritance for gene: DUOXA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.125 | DUOXA2 | Zornitza Stark Classified gene: DUOXA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.125 | DUOXA2 | Zornitza Stark Gene: duoxa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.124 | DUOXA2 | Zornitza Stark reviewed gene: DUOXA2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Thyroid dyshormonogenesis 5, MIM#274900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.124 | DSE | Zornitza Stark Marked gene: DSE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.124 | DSE | Zornitza Stark Gene: dse has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.124 | DSE | Zornitza Stark Phenotypes for gene: DSE were changed from to Ehlers-Danlos syndrome, musculocontractural type 2, MIM#615539 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.123 | DSE | Zornitza Stark Mode of inheritance for gene: DSE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.122 | DSE | Zornitza Stark Classified gene: DSE as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.122 | DSE | Zornitza Stark Gene: dse has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.121 | DSE | Zornitza Stark reviewed gene: DSE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 2, MIM#615539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.121 | DPYS | Zornitza Stark Marked gene: DPYS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.121 | DPYS | Zornitza Stark Gene: dpys has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.121 | DPYS | Zornitza Stark Phenotypes for gene: DPYS were changed from to Dihydropyrimidinuria, MIM#222748 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.120 | DPYS | Zornitza Stark Mode of inheritance for gene: DPYS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.119 | DPYS | Zornitza Stark reviewed gene: DPYS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dihydropyrimidinuria, MIM#222748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.119 | DPP10 | Zornitza Stark Marked gene: DPP10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.119 | DPP10 | Zornitza Stark Gene: dpp10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.119 | DPP10 | Zornitza Stark Publications for gene: DPP10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.118 | DPP10 | Zornitza Stark Classified gene: DPP10 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.118 | DPP10 | Zornitza Stark Gene: dpp10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.117 | DPP10 | Zornitza Stark reviewed gene: DPP10: Rating: RED; Mode of pathogenicity: None; Publications: 28670437; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.117 | DPH1 | Zornitza Stark Marked gene: DPH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.117 | DPH1 | Zornitza Stark Gene: dph1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.117 | DPH1 | Zornitza Stark Phenotypes for gene: DPH1 were changed from to Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM#616901 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.116 | DPH1 | Zornitza Stark Publications for gene: DPH1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.115 | DPH1 | Zornitza Stark Mode of inheritance for gene: DPH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.114 | DPH1 | Zornitza Stark reviewed gene: DPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 26220823; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair, MIM#616901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.114 | DOK7 | Zornitza Stark Marked gene: DOK7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.114 | DOK7 | Zornitza Stark Gene: dok7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.114 | DOK7 | Zornitza Stark Phenotypes for gene: DOK7 were changed from to Myasthenic syndrome, congenital, 10, MIM#254300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.113 | DOK7 | Zornitza Stark Mode of inheritance for gene: DOK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.112 | DOK7 | Zornitza Stark Classified gene: DOK7 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.112 | DOK7 | Zornitza Stark Gene: dok7 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.111 | DOK7 | Zornitza Stark reviewed gene: DOK7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 10, MIM#254300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.111 | DOCK6 | Zornitza Stark Marked gene: DOCK6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.111 | DOCK6 | Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.111 | DOCK6 | Zornitza Stark Phenotypes for gene: DOCK6 were changed from to Adams-Oliver syndrome 2, MIM#614219 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.110 | DOCK6 | Zornitza Stark Mode of inheritance for gene: DOCK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.109 | DOCK6 | Zornitza Stark reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adams-Oliver syndrome 2, MIM#614219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.109 | DOCK4 | Zornitza Stark Marked gene: DOCK4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.109 | DOCK4 | Zornitza Stark Gene: dock4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.109 | DOCK4 | Zornitza Stark Classified gene: DOCK4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.109 | DOCK4 | Zornitza Stark Gene: dock4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.108 | DOCK4 | Zornitza Stark reviewed gene: DOCK4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.108 | DNM1L | Zornitza Stark Marked gene: DNM1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.108 | DNM1L | Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.108 | DNM1L | Zornitza Stark Phenotypes for gene: DNM1L were changed from to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.107 | DNM1L | Zornitza Stark Mode of inheritance for gene: DNM1L was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.106 | DNM1L | Zornitza Stark reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MIM#614388; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.106 | DNAJC6 | Zornitza Stark Marked gene: DNAJC6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.106 | DNAJC6 | Zornitza Stark Gene: dnajc6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.106 | DNAJC6 | Zornitza Stark Phenotypes for gene: DNAJC6 were changed from to Parkinson disease 19a, juvenile-onset, MIM#615528 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.105 | DNAJC6 | Zornitza Stark Mode of inheritance for gene: DNAJC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.104 | DNAJC6 | Zornitza Stark Classified gene: DNAJC6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.104 | DNAJC6 | Zornitza Stark Gene: dnajc6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.103 | DNAJC6 | Zornitza Stark reviewed gene: DNAJC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease 19a, juvenile-onset, MIM#615528; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.103 | DNAJC12 | Zornitza Stark Marked gene: DNAJC12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.103 | DNAJC12 | Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.103 | DNAJC12 | Zornitza Stark Classified gene: DNAJC12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.103 | DNAJC12 | Zornitza Stark Gene: dnajc12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.102 | DNAJC12 |
Zornitza Stark gene: DNAJC12 was added gene: DNAJC12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 Review for gene: DNAJC12 was set to GREEN Added comment: Highly variable neurological phenotype, including ID, dystonia, parkinsonism. Treatable. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.101 | DMPK | Zornitza Stark Marked gene: DMPK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.101 | DMPK | Zornitza Stark Gene: dmpk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.101 | DMPK | Zornitza Stark Phenotypes for gene: DMPK were changed from to Myotonic dystrophy 1, MIM#160900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.100 | DMPK | Zornitza Stark Mode of inheritance for gene: DMPK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.99 | DMPK | Zornitza Stark reviewed gene: DMPK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonic dystrophy 1, MIM#160900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.99 | DLK1 | Zornitza Stark Marked gene: DLK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.99 | DLK1 | Zornitza Stark Gene: dlk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.99 | DLK1 | Zornitza Stark Classified gene: DLK1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.99 | DLK1 | Zornitza Stark Gene: dlk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.98 | DLK1 | Zornitza Stark reviewed gene: DLK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.98 | DLGAP2 | Zornitza Stark Marked gene: DLGAP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.98 | DLGAP2 | Zornitza Stark Gene: dlgap2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.98 | DLGAP2 | Zornitza Stark Classified gene: DLGAP2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.98 | DLGAP2 | Zornitza Stark Gene: dlgap2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.97 | DLGAP2 | Zornitza Stark reviewed gene: DLGAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.97 | DLG4 | Zornitza Stark Marked gene: DLG4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.97 | DLG4 | Zornitza Stark Gene: dlg4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.97 | DLG4 | Zornitza Stark Classified gene: DLG4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.97 | DLG4 | Zornitza Stark Gene: dlg4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.96 | DLG4 | Zornitza Stark reviewed gene: DLG4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.96 | DLAT | Zornitza Stark Marked gene: DLAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.96 | DLAT | Zornitza Stark Gene: dlat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.96 | DLAT | Zornitza Stark Phenotypes for gene: DLAT were changed from to Pyruvate dehydrogenase E2 deficiency, MIM#245348 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.95 | DLAT | Zornitza Stark Mode of inheritance for gene: DLAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.94 | DLAT | Zornitza Stark reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E2 deficiency, MIM#245348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.94 | DISP1 | Zornitza Stark Marked gene: DISP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.94 | DISP1 | Zornitza Stark Gene: disp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.94 | DISP1 | Zornitza Stark Phenotypes for gene: DISP1 were changed from to Holoprosencephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.93 | DISP1 | Zornitza Stark Publications for gene: DISP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.92 | DISP1 | Zornitza Stark Classified gene: DISP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.92 | DISP1 | Zornitza Stark Gene: disp1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.91 | DISP1 | Zornitza Stark reviewed gene: DISP1: Rating: RED; Mode of pathogenicity: None; Publications: 19184110, 26748417, 23542665; Phenotypes: Holoprosencephaly; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.91 | DDX59 | Zornitza Stark Marked gene: DDX59 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.91 | DDX59 | Zornitza Stark Gene: ddx59 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.91 | DDX59 | Zornitza Stark Phenotypes for gene: DDX59 were changed from to Orofaciodigital syndrome V, MIM#174300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.90 | DDX59 | Zornitza Stark Publications for gene: DDX59 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.89 | DDX59 | Zornitza Stark commented on gene: DDX59: Some affected individuals are reported as having ID. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.89 | DDX59 | Zornitza Stark reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: None; Publications: 28711741, 23972372, 29127725; Phenotypes: Orofaciodigital syndrome V, MIM#174300; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.89 | DDR2 | Zornitza Stark Marked gene: DDR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.89 | DDR2 | Zornitza Stark Gene: ddr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.89 | DDR2 | Zornitza Stark Phenotypes for gene: DDR2 were changed from to Warburg-Cinotti syndrome, MIM#618175, AD; Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.88 | DDR2 | Zornitza Stark Mode of inheritance for gene: DDR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.87 | DDR2 | Zornitza Stark Classified gene: DDR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.87 | DDR2 | Zornitza Stark Gene: ddr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.86 | DDR2 | Zornitza Stark reviewed gene: DDR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Warburg-Cinotti syndrome, MIM#618175, AD, Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.86 | DDB1 | Zornitza Stark Marked gene: DDB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.86 | DDB1 | Zornitza Stark Gene: ddb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.86 | DDB1 | Zornitza Stark Classified gene: DDB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.86 | DDB1 | Zornitza Stark Gene: ddb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.85 | DDB1 |
Zornitza Stark gene: DDB1 was added gene: DDB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Research Mode of inheritance for gene: DDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DDB1 were set to Syndromic intellectual disability Review for gene: DDB1 was set to GREEN Added comment: High quality unpublished evidence. Sources: Research |
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| Intellectual disability syndromic and non-syndromic v0.84 | CNTN4 | Zornitza Stark Marked gene: CNTN4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.84 | CNTN4 | Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.84 | CNTN4 | Zornitza Stark Phenotypes for gene: CNTN4 were changed from to Intellectual disability; SCA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.83 | CNTN4 | Zornitza Stark Publications for gene: CNTN4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.82 | CNTN4 | Zornitza Stark Mode of inheritance for gene: CNTN4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.81 | CNTN4 | Zornitza Stark Classified gene: CNTN4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.81 | CNTN4 | Zornitza Stark Gene: cntn4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.80 | CYP2U1 | Zornitza Stark Marked gene: CYP2U1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.80 | CYP2U1 | Zornitza Stark Gene: cyp2u1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.80 | CYP2U1 | Zornitza Stark Phenotypes for gene: CYP2U1 were changed from to Spastic paraplegia 56, autosomal recessive, MIM#615030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.79 | CYP2U1 | Zornitza Stark Mode of inheritance for gene: CYP2U1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.78 | CYP2U1 | Zornitza Stark Classified gene: CYP2U1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.78 | CYP2U1 | Zornitza Stark Gene: cyp2u1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.77 | CYP2U1 | Zornitza Stark reviewed gene: CYP2U1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM#615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.77 | CYFIP1 | Zornitza Stark Marked gene: CYFIP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.77 | CYFIP1 | Zornitza Stark Gene: cyfip1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.77 | CYFIP1 | Zornitza Stark Classified gene: CYFIP1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.77 | CYFIP1 | Zornitza Stark Gene: cyfip1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.76 | CYFIP1 | Zornitza Stark reviewed gene: CYFIP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.76 | CUX2 | Zornitza Stark Marked gene: CUX2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.76 | CUX2 | Zornitza Stark Gene: cux2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.76 | CUX2 | Zornitza Stark Phenotypes for gene: CUX2 were changed from to Epileptic encephalopathy, early infantile, 67, MIM#618141 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.75 | CUX2 | Zornitza Stark Publications for gene: CUX2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.74 | CUX2 | Zornitza Stark Mode of inheritance for gene: CUX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.73 | CUX2 | Zornitza Stark reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29630738, 29795476; Phenotypes: Epileptic encephalopathy, early infantile, 67, MIM#618141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.73 | CUBN | Zornitza Stark Marked gene: CUBN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.73 | CUBN | Zornitza Stark Gene: cubn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.73 | CUBN | Zornitza Stark Phenotypes for gene: CUBN were changed from to Megaloblastic anemia-1, Finnish type, MIM#261100; Proteinuria | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.72 | CUBN | Zornitza Stark Mode of inheritance for gene: CUBN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.71 | CUBN | Zornitza Stark Classified gene: CUBN as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.71 | CUBN | Zornitza Stark Gene: cubn has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.70 | CUBN | Zornitza Stark reviewed gene: CUBN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Megaloblastic anemia-1, Finnish type, MIM#261100, Proteinuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.70 | CTU2 | Zornitza Stark Marked gene: CTU2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.70 | CTU2 | Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.70 | CTU2 | Zornitza Stark Classified gene: CTU2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.70 | CTU2 | Zornitza Stark Gene: ctu2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.69 | CTU2 |
Zornitza Stark gene: CTU2 was added gene: CTU2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTU2 were set to 27480277; 26633546 Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, MIM#618142 Review for gene: CTU2 was set to GREEN Added comment: Multiple Saudi families reported with same homozygous variant; founder effect. Severe disorder of infancy. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.68 | CTSF | Zornitza Stark Marked gene: CTSF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.68 | CTSF | Zornitza Stark Gene: ctsf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.68 | CTSF | Zornitza Stark Phenotypes for gene: CTSF were changed from to Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM#615362 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.67 | CTSF | Zornitza Stark Mode of inheritance for gene: CTSF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.66 | CTSF | Zornitza Stark Classified gene: CTSF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.66 | CTSF | Zornitza Stark Gene: ctsf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.65 | CTSF | Zornitza Stark reviewed gene: CTSF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM#615362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.65 | CTNNA2 | Zornitza Stark Marked gene: CTNNA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.65 | CTNNA2 | Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.65 | CTNNA2 | Zornitza Stark Classified gene: CTNNA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.65 | CTNNA2 | Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.64 | CTNNA2 |
Zornitza Stark gene: CTNNA2 was added gene: CTNNA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNNA2 were set to 30013181 Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, MIM#618174 Review for gene: CTNNA2 was set to GREEN Added comment: 13 children from three unrelated families reported, severe ID as part of the phenotype. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.63 | CRTAP | Zornitza Stark Marked gene: CRTAP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.63 | CRTAP | Zornitza Stark Gene: crtap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.63 | CRTAP | Zornitza Stark Phenotypes for gene: CRTAP were changed from to Osteogenesis imperfecta, type VII, MIM#610682 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.62 | CRTAP | Zornitza Stark Mode of inheritance for gene: CRTAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.61 | CRTAP | Zornitza Stark Classified gene: CRTAP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.61 | CRTAP | Zornitza Stark Gene: crtap has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.60 | CRTAP | Zornitza Stark reviewed gene: CRTAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type VII, MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.60 | CRLF1 | Zornitza Stark Marked gene: CRLF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.60 | CRLF1 | Zornitza Stark Gene: crlf1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.60 | CRLF1 | Zornitza Stark Phenotypes for gene: CRLF1 were changed from to Cold-induced sweating syndrome 1, MIM#272430 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.59 | CRLF1 | Zornitza Stark Mode of inheritance for gene: CRLF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.58 | CRLF1 | Zornitza Stark Classified gene: CRLF1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.58 | CRLF1 | Zornitza Stark Gene: crlf1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.57 | CRLF1 | Zornitza Stark reviewed gene: CRLF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cold-induced sweating syndrome 1, MIM#272430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.57 | CRKL | Zornitza Stark Marked gene: CRKL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.57 | CRKL | Zornitza Stark Gene: crkl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.57 | CRKL | Zornitza Stark Publications for gene: CRKL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.56 | CRKL | Zornitza Stark Mode of inheritance for gene: CRKL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.55 | CRKL | Zornitza Stark Classified gene: CRKL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.55 | CRKL | Zornitza Stark Gene: crkl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.54 | CRKL | Zornitza Stark reviewed gene: CRKL: Rating: RED; Mode of pathogenicity: None; Publications: 28121514, 25565927; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.54 | CPA6 | Zornitza Stark Marked gene: CPA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.54 | CPA6 | Zornitza Stark Gene: cpa6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.54 | CPA6 | Zornitza Stark Phenotypes for gene: CPA6 were changed from to Epilepsy, familial temporal lobe, 5, MIM#614417; Febrile seizures, familial, 11, MIM#614418 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.53 | CPA6 | Zornitza Stark Publications for gene: CPA6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.52 | CPA6 | Zornitza Stark Mode of inheritance for gene: CPA6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.51 | CPA6 | Zornitza Stark Classified gene: CPA6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.51 | CPA6 | Zornitza Stark Gene: cpa6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.50 | CPA6 | Zornitza Stark reviewed gene: CPA6: Rating: RED; Mode of pathogenicity: None; Publications: 25875328, 21922598, 23105115; Phenotypes: Epilepsy, familial temporal lobe, 5, MIM#614417, Febrile seizures, familial, 11, MIM#614418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.50 | CP | Zornitza Stark Marked gene: CP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.50 | CP | Zornitza Stark Gene: cp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.50 | CP | Zornitza Stark Phenotypes for gene: CP were changed from to Aceruloplasminaemia, MIM#604290 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.49 | CP | Zornitza Stark Mode of inheritance for gene: CP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.48 | CP | Zornitza Stark Classified gene: CP as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.48 | CP | Zornitza Stark Gene: cp has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.47 | CP | Zornitza Stark reviewed gene: CP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aceruloplasminaemia, MIM#604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.47 | COX7B | Zornitza Stark Marked gene: COX7B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.47 | COX7B | Zornitza Stark Gene: cox7b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.47 | COX7B | Zornitza Stark Phenotypes for gene: COX7B were changed from to Linear skin defects with multiple congenital anomalies 2, MIM#300887 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.46 | COX7B | Zornitza Stark Publications for gene: COX7B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.45 | COX7B | Zornitza Stark Classified gene: COX7B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.45 | COX7B | Zornitza Stark Gene: cox7b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.44 | COX7B | Zornitza Stark reviewed gene: COX7B: Rating: AMBER; Mode of pathogenicity: None; Publications: 23122588; Phenotypes: Linear skin defects with multiple congenital anomalies 2, MIM#300887; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.44 | COX4I2 | Zornitza Stark Marked gene: COX4I2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.44 | COX4I2 | Zornitza Stark Gene: cox4i2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.44 | COX4I2 | Zornitza Stark Phenotypes for gene: COX4I2 were changed from to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.43 | COX4I2 | Zornitza Stark Publications for gene: COX4I2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.42 | COX4I2 | Zornitza Stark Classified gene: COX4I2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.42 | COX4I2 | Zornitza Stark Gene: cox4i2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.41 | COX4I2 | Zornitza Stark reviewed gene: COX4I2: Rating: RED; Mode of pathogenicity: None; Publications: 19268275, 22730437; Phenotypes: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.41 | COX20 | Zornitza Stark Marked gene: COX20 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.41 | COX20 | Zornitza Stark Gene: cox20 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.41 | COX20 | Zornitza Stark Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, MIM#220110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.40 | COX20 | Zornitza Stark Publications for gene: COX20 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.39 | COX20 | Zornitza Stark Mode of inheritance for gene: COX20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.38 | COX20 | Zornitza Stark Classified gene: COX20 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.38 | COX20 | Zornitza Stark Gene: cox20 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.37 | COX20 | Zornitza Stark reviewed gene: COX20: Rating: RED; Mode of pathogenicity: None; Publications: 31079202, 30656193, 24202787; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.37 | COX14 | Zornitza Stark Marked gene: COX14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.37 | COX14 | Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.37 | COX14 | Zornitza Stark Phenotypes for gene: COX14 were changed from to Mitochondrial complex IV deficiency, MIM#220110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.36 | COX14 | Zornitza Stark Publications for gene: COX14 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.35 | COX14 | Zornitza Stark Mode of inheritance for gene: COX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.34 | COX14 | Zornitza Stark Classified gene: COX14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.34 | COX14 | Zornitza Stark Gene: cox14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.33 | COX14 | Zornitza Stark reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: None; Publications: 22243966; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.33 | CORO1A | Zornitza Stark Marked gene: CORO1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.33 | CORO1A | Zornitza Stark Gene: coro1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.33 | CORO1A | Zornitza Stark Phenotypes for gene: CORO1A were changed from to Immunodeficiency 8, MIM#615401 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.32 | CORO1A | Zornitza Stark Mode of inheritance for gene: CORO1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.31 | CORO1A | Zornitza Stark Classified gene: CORO1A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.31 | CORO1A | Zornitza Stark Gene: coro1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.30 | CORO1A | Zornitza Stark reviewed gene: CORO1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 8, MIM#615401; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.30 | COQ9 | Zornitza Stark reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 5, MIM#614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.30 | COQ2 | Zornitza Stark Marked gene: COQ2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.30 | COQ2 | Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.30 | COQ2 | Zornitza Stark Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM#607426 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.29 | COQ2 | Zornitza Stark Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.28 | COQ2 | Zornitza Stark reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary, 1, MIM#607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.28 | COL18A1 | Zornitza Stark Marked gene: COL18A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.28 | COL18A1 | Zornitza Stark Gene: col18a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.28 | COL18A1 | Zornitza Stark Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1, MIM#267750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.27 | COL18A1 | Zornitza Stark Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.26 | COL18A1 | Zornitza Stark Classified gene: COL18A1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.26 | COL18A1 | Zornitza Stark Gene: col18a1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.25 | COL18A1 | Zornitza Stark reviewed gene: COL18A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Knobloch syndrome, type 1, MIM#267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.25 | COG6 | Zornitza Stark reviewed gene: COG6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iil, MIM#614576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.25 | CNTNAP5 | Zornitza Stark Marked gene: CNTNAP5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.25 | CNTNAP5 | Zornitza Stark Gene: cntnap5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.25 | CNTNAP5 | Zornitza Stark Phenotypes for gene: CNTNAP5 were changed from to Autism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.24 | CNTNAP5 | Zornitza Stark Publications for gene: CNTNAP5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.23 | CNTNAP5 | Zornitza Stark Mode of inheritance for gene: CNTNAP5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.22 | CNTNAP5 | Zornitza Stark Classified gene: CNTNAP5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.22 | CNTNAP5 | Zornitza Stark Gene: cntnap5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.21 | CNTNAP5 | Zornitza Stark reviewed gene: CNTNAP5: Rating: RED; Mode of pathogenicity: None; Publications: 20346443; Phenotypes: Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.21 | CNTNAP1 | Zornitza Stark Marked gene: CNTNAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.21 | CNTNAP1 | Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.21 | CNTNAP1 | Zornitza Stark Phenotypes for gene: CNTNAP1 were changed from to Hypomyelinating neuropathy, congenital, 3, MIM#618186; Lethal congenital contracture syndrome 7, MIM# 616286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.20 | CNTNAP1 | Zornitza Stark Publications for gene: CNTNAP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.19 | CNTNAP1 | Zornitza Stark Mode of inheritance for gene: CNTNAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.18 | CNTNAP1 | Zornitza Stark reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374019, 29511323, 27668699; Phenotypes: Hypomyelinating neuropathy, congenital, 3, MIM#618186, Lethal congenital contracture syndrome 7, MIM# 616286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.18 | ABCC6 | Chirag Patel Marked gene: ABCC6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.18 | ABCC6 | Chirag Patel Added comment: Comment when marking as ready: Agree not an ID gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.18 | ABCC6 | Chirag Patel Gene: abcc6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.18 | ABCC6 | Chirag Patel Mode of inheritance for gene: ABCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.17 | ABCC6 | Chirag Patel Classified gene: ABCC6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.17 | ABCC6 | Chirag Patel Gene: abcc6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.16 | CHD3 | Zornitza Stark Marked gene: CHD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.16 | CHD3 | Zornitza Stark Gene: chd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.16 | CHD3 | Zornitza Stark Classified gene: CHD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.16 | CHD3 | Zornitza Stark Gene: chd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.15 | ABAT | Zornitza Stark Marked gene: ABAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.15 | ABAT | Zornitza Stark Gene: abat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.15 | ABAT | Zornitza Stark Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM#613163 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.14 | ABAT | Zornitza Stark Publications for gene: ABAT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.13 | ABAT | Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.12 | AAAS | Zornitza Stark Marked gene: AAAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.12 | AAAS | Zornitza Stark Gene: aaas has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.12 | AAAS | Zornitza Stark Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, MIM#231550 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.11 | AAAS | Zornitza Stark Mode of inheritance for gene: AAAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.10 | CNTN4 | Zornitza Stark reviewed gene: CNTN4: Rating: RED; Mode of pathogenicity: None; Publications: 15106122, 18349135, 17932120; Phenotypes: Intellectual disability, SCA; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.10 | CLIP2 | Zornitza Stark reviewed gene: CLIP2: Rating: RED; Mode of pathogenicity: None; Publications: 22608712; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.10 | CLCNKB | Zornitza Stark reviewed gene: CLCNKB: Rating: GREEN; Mode of pathogenicity: None; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 3, MIM#607364, Bartter syndrome, type 4b, digenic, MIM#613090; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.10 | CLCNKA | Zornitza Stark reviewed gene: CLCNKA: Rating: GREEN; Mode of pathogenicity: None; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 4b, digenic, MIM#613090; Mode of inheritance: Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.10 | CLCN2 | Zornitza Stark reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23707145; Phenotypes: Leukoencephalopathy with ataxia, MIM#615651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.10 | CISD2 | Zornitza Stark reviewed gene: CISD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolfram syndrome 2, MIM#604928; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.10 | CHST14 | Zornitza Stark reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: None; Publications: 25703627; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 1, MIM#601776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.10 | CHD3 |
Zornitza Stark gene: CHD3 was added gene: CHD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD3 were set to 30397230 Phenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome, MIM#618205 Review for gene: CHD3 was set to GREEN gene: CHD3 was marked as current diagnostic Added comment: 35 individuals from 33 unrelated families reported with heterozygous variants in this gene. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.9 | CHD1 |
Zornitza Stark gene: CHD1 was added gene: CHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Literature Mode of inheritance for gene: CHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD1 were set to 28866611 Phenotypes for gene: CHD1 were set to Pilarowski-Bjornsson syndrome, MIM#617682 Review for gene: CHD1 was set to GREEN Added comment: Six unrelated individuals with heterozygous variants reported. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.8 | CFHR3 | Zornitza Stark reviewed gene: CFHR3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | CFHR1 | Zornitza Stark reviewed gene: CFHR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic uremic syndrome, atypical, susceptibility to, MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | CFH | Zornitza Stark reviewed gene: CFH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Complement factor H deficiency, MIM#609814; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | CEP89 | Zornitza Stark reviewed gene: CEP89: Rating: AMBER; Mode of pathogenicity: None; Publications: 23575228; Phenotypes: Mitochondrial complex IV deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | CEP63 | Zornitza Stark reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: None; Publications: 21983783, 26158450; Phenotypes: Seckel syndrome 6, MIM#614728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | CDT1 | Zornitza Stark reviewed gene: CDT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meier-Gorlin syndrome 4, MIM#613804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | KIF1BP | Zornitza Stark Marked gene: KIF1BP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | KIF1BP | Zornitza Stark Gene: kif1bp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | KIF1BP | Zornitza Stark Classified gene: KIF1BP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.8 | KIF1BP | Zornitza Stark Gene: kif1bp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.7 | KIF1BP |
Zornitza Stark gene: KIF1BP was added gene: KIF1BP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome 609460 Review for gene: KIF1BP was set to GREEN Added comment: Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.6 | CDK6 | Zornitza Stark reviewed gene: CDK6: Rating: AMBER; Mode of pathogenicity: None; Publications: 23918663; Phenotypes: Microcephaly 12, primary, autosomal recessive, MIM#616080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6 | CDK16 | Zornitza Stark reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: None; Publications: 25644381; Phenotypes: Intellectual disability; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6 | CD96 | Zornitza Stark reviewed gene: CD96: Rating: AMBER; Mode of pathogenicity: None; Publications: 17847009; Phenotypes: C syndrome, MIM#211750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6 | CCDC8 | Zornitza Stark reviewed gene: CCDC8: Rating: RED; Mode of pathogenicity: None; Publications: 21737058; Phenotypes: 3-M syndrome 3, MIM#614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6 | CCDC78 | Zornitza Stark reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: None; Publications: 22818856; Phenotypes: Centronuclear myopathy 4, MIM#614807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6 | CACNA1G | Zornitza Stark reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: None; Publications: 29878067; Phenotypes: Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.6 | CACNA1E |
Zornitza Stark gene: CACNA1E was added gene: CACNA1E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: CACNA1E was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1E were set to 30343943 Phenotypes for gene: CACNA1E were set to Epileptic encephalopathy, early infantile, 69, MIM#618285 Review for gene: CACNA1E was set to GREEN gene: CACNA1E was marked as current diagnostic Added comment: At least 30 unrelated patients reported with heterozygous variants in this gene; primarily a seizure disorder, often with profound intellectual disability. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.5 | CA8 | Zornitza Stark reviewed gene: CA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 19461874; Phenotypes: Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, MIM#613227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | CA2 | Zornitza Stark reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | C19orf12 | Zornitza Stark reviewed gene: C19orf12: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 4, MIM#614298; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | BSND | Zornitza Stark reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bartter syndrome, type 4a, MIM#602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | BRAT1 | Zornitza Stark reviewed gene: BRAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26483087, 26494257, 27282546; Phenotypes: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | BMPER | Zornitza Stark reviewed gene: BMPER: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diaphanospondylodysostosis, MIM#608022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | BICD2 | Zornitza Stark reviewed gene: BICD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM#615290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | BDNF | Zornitza Stark reviewed gene: BDNF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Central hypoventilation syndrome, congenital, MIM#209880; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | BBIP1 | Zornitza Stark reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24026985; Phenotypes: Bardet-Biedl syndrome 18, MIM#615995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | B9D2 | Zornitza Stark reviewed gene: B9D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26092869, 21763481; Phenotypes: Joubert syndrome 34, MIM#614175, Meckel syndrome 10, MIM#614175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | B9D1 | Zornitza Stark reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24886560, 21493627; Phenotypes: Joubert syndrome 27, MIM#617120, Meckel syndrome 9, MIM#614209; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | B4GALT1 | Zornitza Stark reviewed gene: B4GALT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11901181, 30653653, 21920538; Phenotypes: Congenital disorder of glycosylation, type Iid, MIM#607091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | B3GAT3 | Zornitza Stark reviewed gene: B3GAT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | B3GALT6 | Zornitza Stark reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM#615349, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | AVPR2 | Zornitza Stark reviewed gene: AVPR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, nephrogenic, MIM#304800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | AVPR1A | Zornitza Stark reviewed gene: AVPR1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | AVP | Zornitza Stark reviewed gene: AVP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes insipidus, neurohypophyseal, MIM#125700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | ATXN10 | Zornitza Stark reviewed gene: ATXN10: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia 10, MIM#603516; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | ATP8A2 | Zornitza Stark reviewed gene: ATP8A2: Rating: ; Mode of pathogenicity: None; Publications: 22892528, 31612321; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5 | ATP6AP1 |
Zornitza Stark gene: ATP6AP1 was added gene: ATP6AP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP6AP1 were set to 27231034 Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, MIM#300972 Review for gene: ATP6AP1 was set to GREEN gene: ATP6AP1 was marked as current diagnostic Added comment: 11 males from 6 unrelated families with primarily an immunodeficiency disorder; six patients from 3 families who carried the same variant (E346K) had neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.4 | ATP2B3 | Zornitza Stark reviewed gene: ATP2B3: Rating: RED; Mode of pathogenicity: None; Publications: 22912398, 27653636; Phenotypes: Spinocerebellar ataxia, X-linked 1, MIM#302500; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4 | ATP2A2 | Zornitza Stark reviewed gene: ATP2A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Darier disease, MIM#124200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4 | ATP1A3 | Zornitza Stark reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Alternating hemiplegia of childhood 2, MIM#614820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4 | ATP10A | Zornitza Stark reviewed gene: ATP10A: Rating: RED; Mode of pathogenicity: None; Publications: 31696658; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.4 | ATAD1 |
Zornitza Stark gene: ATAD1 was added gene: ATAD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATAD1 were set to 28180185 Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, MIM#618011 Review for gene: ATAD1 was set to GREEN gene: ATAD1 was marked as current diagnostic Added comment: Severe progressive neurological disorder, severe/profound intellectual disability is a feature Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.3 | ASTN1 |
Zornitza Stark gene: ASTN1 was added gene: ASTN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: ASTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASTN1 were set to 29706646; 27431290; 26539891 Review for gene: ASTN1 was set to GREEN gene: ASTN1 was marked as current diagnostic Added comment: Three families reported as part of large cohorts albeit proposing multiple novel candidate genes with minimal detail and no functional validation. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.2 | ASNS | Zornitza Stark reviewed gene: ASNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Asparagine synthetase deficiency, MIM#615574; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2 | ASL | Zornitza Stark reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininosuccinic aciduria, MIM#207900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.2 | ASH1L |
Zornitza Stark gene: ASH1L was added gene: ASH1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list Mode of inheritance for gene: ASH1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ASH1L were set to 23033978; 25961944; 28394464; 28191889; 27824329 Phenotypes for gene: ASH1L were set to Mental retardation, autosomal dominant 52, MIM#617796 Review for gene: ASH1L was set to GREEN gene: ASH1L was marked as current diagnostic Added comment: Multiple cases with de novo variants and intellectual disability reported as part of large cohorts identifying multiple candidate genes. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.1 | ARNT2 | Zornitza Stark reviewed gene: ARNT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24022475; Phenotypes: Webb-Dattani syndrome 615926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1 | ARHGAP31 | Zornitza Stark reviewed gene: ARHGAP31: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Adams-Oliver syndrome 1, MIM#100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1 | APTX | Zornitza Stark reviewed gene: APTX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MIM#208920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1 | ANKH | Zornitza Stark reviewed gene: ANKH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Craniometaphyseal dysplasia, MIM#123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1 | ALX3 | Zornitza Stark reviewed gene: ALX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19409524; Phenotypes: Frontonasal dysplasia 1, MIM#136760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1 | ALX1 | Zornitza Stark reviewed gene: ALX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27324866, 20451171, 23059813; Phenotypes: Frontonasal dysplasia 3, MIM#613456; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1 | ALS2 | Zornitza Stark reviewed gene: ALS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paralysis, infantile onset ascending, MIM#607225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.1 | ABAT | Zornitza Stark edited their review of gene: ABAT: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ALG14 | Zornitza Stark edited their review of gene: ALG14: Added comment: 5 individuals from unrelated families described in the literature: one with myasthenic syndrome, no report of ID; second with predominantly ID phenotype; and three more with a neurodegenerative phenotype.; Changed rating: GREEN; Changed publications: 30221345, 23404334, 28733338 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ALG14 | Zornitza Stark reviewed gene: ALG14: Rating: AMBER; Mode of pathogenicity: None; Publications: 30221345, 23404334; Phenotypes: Myasthenic syndrome, congenital, 15, without tubular aggregates, MIM#616227, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ALDOB | Zornitza Stark reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fructose intolerance, hereditary, MIM#229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ALDOA | Zornitza Stark reviewed gene: ALDOA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease XII, MIM#611881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AKR1C2 | Zornitza Stark reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 46XY sex reversal 8, MIM#614279; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AHCY | Zornitza Stark reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AGTR2 | Zornitza Stark reviewed gene: AGTR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AGT | Zornitza Stark reviewed gene: AGT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal tubular dysgenesis, MIM#267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AGPS | Zornitza Stark reviewed gene: AGPS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 3, MIM#600121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AGK | Zornitza Stark reviewed gene: AGK: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sengers syndrome, MIM#212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AGGF1 | Zornitza Stark reviewed gene: AGGF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AGA | Zornitza Stark reviewed gene: AGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aspartylglucosaminuria, MIM#208400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AFG3L2 | Zornitza Stark reviewed gene: AFG3L2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic ataxia 5, autosomal recessive, MIM#614487; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ADD3 | Zornitza Stark reviewed gene: ADD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29768408, 23836506; Phenotypes: Cerebral palsy, spastic quadriplegic, 3, MIM#617008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ADCY5 | Zornitza Stark reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskinesia, familial, with facial myokymia, MIM#606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ADAT3 | Zornitza Stark reviewed gene: ADAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23620220, 26842963, 29796286; Phenotypes: Mental retardation, autosomal recessive 36, MIM#615286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ADAMTSL2 | Zornitza Stark reviewed gene: ADAMTSL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Geleophysic dysplasia 1, MIM#231050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ADAMTS10 | Zornitza Stark reviewed gene: ADAMTS10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Weill-Marchesani syndrome 1, recessive, MIM#277600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ADA2 | Zornitza Stark reviewed gene: ADA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, MIM#615688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ACTA1 | Zornitza Stark reviewed gene: ACTA1: Rating: RED; Mode of pathogenicity: None; Publications: 21514153; Phenotypes: Myopathy, actin, congenital, with excess of thin myofilaments, MIM#161800, Nemaline myopathy 3, MIM#161800, Myopathy, actin, congenital, with cores, MIM#161800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ABCG5 | Zornitza Stark reviewed gene: ABCG5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Sitosterolemia 2, MIM#618666; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ABCC6 | Zornitza Stark reviewed gene: ABCC6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arterial calcification, generalized, of infancy, 2, MIM#614473, Pseudoxanthoma elasticum, MIM#264800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ABAT | Zornitza Stark reviewed gene: ABAT: Rating: ; Mode of pathogenicity: None; Publications: 10407778, 20052547, 27596361, 28411234,; Phenotypes: GABA-transaminase deficiency, MIM#613163; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | AAAS | Zornitza Stark reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, MIM#231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ZBTB11 |
Zornitza Stark gene: ZBTB11 was added gene: ZBTB11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZBTB11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | YY1 |
Zornitza Stark gene: YY1 was added gene: YY1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: YY1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | YWHAG |
Zornitza Stark gene: YWHAG was added gene: YWHAG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: YWHAG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | XRCC4 |
Zornitza Stark gene: XRCC4 was added gene: XRCC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: XRCC4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | XIST |
Zornitza Stark gene: XIST was added gene: XIST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: XIST was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR73 |
Zornitza Stark gene: WDR73 was added gene: WDR73 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR73 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR45B |
Zornitza Stark gene: WDR45B was added gene: WDR45B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR45B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDFY3 |
Zornitza Stark gene: WDFY3 was added gene: WDFY3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDFY3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WAC |
Zornitza Stark gene: WAC was added gene: WAC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WAC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VARS2 |
Zornitza Stark gene: VARS2 was added gene: VARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VARS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VAMP1 |
Zornitza Stark gene: VAMP1 was added gene: VAMP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VAMP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | USP18 |
Zornitza Stark gene: USP18 was added gene: USP18 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: USP18 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UNC13A |
Zornitza Stark gene: UNC13A was added gene: UNC13A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UNC13A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UBTF |
Zornitza Stark gene: UBTF was added gene: UBTF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UBTF was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UBR4 |
Zornitza Stark gene: UBR4 was added gene: UBR4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UBR4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UBA5 |
Zornitza Stark gene: UBA5 was added gene: UBA5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UBA5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TXNL4A |
Zornitza Stark gene: TXNL4A was added gene: TXNL4A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TXNL4A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBG1 |
Zornitza Stark gene: TUBG1 was added gene: TUBG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBG1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBB2A |
Zornitza Stark gene: TUBB2A was added gene: TUBB2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBB2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBB |
Zornitza Stark gene: TUBB was added gene: TUBB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRMT1 |
Zornitza Stark gene: TRMT1 was added gene: TRMT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRMT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRIT1 |
Zornitza Stark gene: TRIT1 was added gene: TRIT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRIT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRIP13 |
Zornitza Stark gene: TRIP13 was added gene: TRIP13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRIP13 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRIM37 |
Zornitza Stark gene: TRIM37 was added gene: TRIM37 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRIM37 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRAPPC6B |
Zornitza Stark gene: TRAPPC6B was added gene: TRAPPC6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRAPPC6B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRAPPC6A |
Zornitza Stark gene: TRAPPC6A was added gene: TRAPPC6A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRAPPC6A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRAPPC12 |
Zornitza Stark gene: TRAPPC12 was added gene: TRAPPC12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRAPPC12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRAK1 |
Zornitza Stark gene: TRAK1 was added gene: TRAK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRAK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TOE1 |
Zornitza Stark gene: TOE1 was added gene: TOE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TOE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TNRC6B |
Zornitza Stark gene: TNRC6B was added gene: TNRC6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TNRC6B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMTC3 |
Zornitza Stark gene: TMTC3 was added gene: TMTC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMTC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMLHE |
Zornitza Stark gene: TMLHE was added gene: TMLHE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMLHE was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM260 |
Zornitza Stark gene: TMEM260 was added gene: TMEM260 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM260 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TLK2 |
Zornitza Stark gene: TLK2 was added gene: TLK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TLK2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | THRA |
Zornitza Stark gene: THRA was added gene: THRA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: THRA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | THAP1 |
Zornitza Stark gene: THAP1 was added gene: THAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: THAP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TCF20 |
Zornitza Stark gene: TCF20 was added gene: TCF20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TCF20 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBR1 |
Zornitza Stark gene: TBR1 was added gene: TBR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBCK |
Zornitza Stark gene: TBCK was added gene: TBCK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBCK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBCD |
Zornitza Stark gene: TBCD was added gene: TBCD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBCD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBC1D23 |
Zornitza Stark gene: TBC1D23 was added gene: TBC1D23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBC1D23 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TAZ |
Zornitza Stark gene: TAZ was added gene: TAZ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAZ was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TAOK1 |
Zornitza Stark gene: TAOK1 was added gene: TAOK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAOK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TANGO2 |
Zornitza Stark gene: TANGO2 was added gene: TANGO2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TANGO2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TAF8 |
Zornitza Stark gene: TAF8 was added gene: TAF8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAF8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TAF6 |
Zornitza Stark gene: TAF6 was added gene: TAF6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAF6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TAF13 |
Zornitza Stark gene: TAF13 was added gene: TAF13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAF13 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SURF1 |
Zornitza Stark gene: SURF1 was added gene: SURF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SURF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STX1B |
Zornitza Stark gene: STX1B was added gene: STX1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STX1B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STAG1 |
Zornitza Stark gene: STAG1 was added gene: STAG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STAG1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPRTN |
Zornitza Stark gene: SPRTN was added gene: SPRTN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPRTN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPG11 |
Zornitza Stark gene: SPG11 was added gene: SPG11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPG11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPECC1L |
Zornitza Stark gene: SPECC1L was added gene: SPECC1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPECC1L was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPART |
Zornitza Stark gene: SPART was added gene: SPART was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPART was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOX9 |
Zornitza Stark gene: SOX9 was added gene: SOX9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOX9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SON |
Zornitza Stark gene: SON was added gene: SON was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SON was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SNX14 |
Zornitza Stark gene: SNX14 was added gene: SNX14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SNX14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SNRPA |
Zornitza Stark gene: SNRPA was added gene: SNRPA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SNRPA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SNORD118 |
Zornitza Stark gene: SNORD118 was added gene: SNORD118 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SNORD118 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMPD4 |
Zornitza Stark gene: SMPD4 was added gene: SMPD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMPD4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC9A7 |
Zornitza Stark gene: SLC9A7 was added gene: SLC9A7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC9A7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC6A9 |
Zornitza Stark gene: SLC6A9 was added gene: SLC6A9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC6A9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC6A1 |
Zornitza Stark gene: SLC6A1 was added gene: SLC6A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC6A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC46A1 |
Zornitza Stark gene: SLC46A1 was added gene: SLC46A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC46A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC45A1 |
Zornitza Stark gene: SLC45A1 was added gene: SLC45A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC45A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC39A8 |
Zornitza Stark gene: SLC39A8 was added gene: SLC39A8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC39A8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC39A14 |
Zornitza Stark gene: SLC39A14 was added gene: SLC39A14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC39A14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A24 |
Zornitza Stark gene: SLC25A24 was added gene: SLC25A24 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A24 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A20 |
Zornitza Stark gene: SLC25A20 was added gene: SLC25A20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A20 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC12A5 |
Zornitza Stark gene: SLC12A5 was added gene: SLC12A5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC12A5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SIN3A |
Zornitza Stark gene: SIN3A was added gene: SIN3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SIN3A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SIK1 |
Zornitza Stark gene: SIK1 was added gene: SIK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SIK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SHANK1 |
Zornitza Stark gene: SHANK1 was added gene: SHANK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SHANK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SGPL1 |
Zornitza Stark gene: SGPL1 was added gene: SGPL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SGPL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SETD1B |
Zornitza Stark gene: SETD1B was added gene: SETD1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SETD1B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SET |
Zornitza Stark gene: SET was added gene: SET was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SET was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCN3A |
Zornitza Stark gene: SCN3A was added gene: SCN3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCN3A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SAMD9 |
Zornitza Stark gene: SAMD9 was added gene: SAMD9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SAMD9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RTEL1 |
Zornitza Stark gene: RTEL1 was added gene: RTEL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RTEL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RPS23 |
Zornitza Stark gene: RPS23 was added gene: RPS23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RPS23 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RNF135 |
Zornitza Stark gene: RNF135 was added gene: RNF135 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RNF135 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RNF125 |
Zornitza Stark gene: RNF125 was added gene: RNF125 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RNF125 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RIMS1 |
Zornitza Stark gene: RIMS1 was added gene: RIMS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RIMS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RHEB |
Zornitza Stark gene: RHEB was added gene: RHEB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RHEB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RERE |
Zornitza Stark gene: RERE was added gene: RERE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RERE was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAC3 |
Zornitza Stark gene: RAC3 was added gene: RAC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAC1 |
Zornitza Stark gene: RAC1 was added gene: RAC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAB11B |
Zornitza Stark gene: RAB11B was added gene: RAB11B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAB11B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | QRICH1 |
Zornitza Stark gene: QRICH1 was added gene: QRICH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: QRICH1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PYCR2 |
Zornitza Stark gene: PYCR2 was added gene: PYCR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PYCR2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PUM1 |
Zornitza Stark gene: PUM1 was added gene: PUM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PUM1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PUF60 |
Zornitza Stark gene: PUF60 was added gene: PUF60 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PUF60 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PTPN23 |
Zornitza Stark gene: PTPN23 was added gene: PTPN23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PTPN23 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PTF1A |
Zornitza Stark gene: PTF1A was added gene: PTF1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PTF1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PSMD12 |
Zornitza Stark gene: PSMD12 was added gene: PSMD12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PSMD12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRUNE1 |
Zornitza Stark gene: PRUNE1 was added gene: PRUNE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRUNE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRRT2 |
Zornitza Stark gene: PRRT2 was added gene: PRRT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRRT2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRMT7 |
Zornitza Stark gene: PRMT7 was added gene: PRMT7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRMT7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRKD1 |
Zornitza Stark gene: PRKD1 was added gene: PRKD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRKD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPP3CA |
Zornitza Stark gene: PPP3CA was added gene: PPP3CA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPP3CA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPP1R15B |
Zornitza Stark gene: PPP1R15B was added gene: PPP1R15B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPP1R15B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPP1CB |
Zornitza Stark gene: PPP1CB was added gene: PPP1CB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPP1CB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POLG |
Zornitza Stark gene: POLG was added gene: POLG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POLG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POGZ |
Zornitza Stark gene: POGZ was added gene: POGZ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POGZ was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PLPBP |
Zornitza Stark gene: PLPBP was added gene: PLPBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PLPBP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PLK4 |
Zornitza Stark gene: PLK4 was added gene: PLK4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PLK4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PLAA |
Zornitza Stark gene: PLAA was added gene: PLAA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PLAA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGC |
Zornitza Stark gene: PIGC was added gene: PIGC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PGM3 |
Zornitza Stark gene: PGM3 was added gene: PGM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PGM3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX26 |
Zornitza Stark gene: PEX26 was added gene: PEX26 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX26 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX14 |
Zornitza Stark gene: PEX14 was added gene: PEX14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX1 |
Zornitza Stark gene: PEX1 was added gene: PEX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCLO |
Zornitza Stark gene: PCLO was added gene: PCLO was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCLO was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCGF2 |
Zornitza Stark gene: PCGF2 was added gene: PCGF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCGF2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCDH12 |
Zornitza Stark gene: PCDH12 was added gene: PCDH12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCDH12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCDH10 |
Zornitza Stark gene: PCDH10 was added gene: PCDH10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCDH10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PBX1 |
Zornitza Stark gene: PBX1 was added gene: PBX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PBX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAX8 |
Zornitza Stark gene: PAX8 was added gene: PAX8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAX8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAX7 |
Zornitza Stark gene: PAX7 was added gene: PAX7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAX7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PARN |
Zornitza Stark gene: PARN was added gene: PARN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PARN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PACS2 |
Zornitza Stark gene: PACS2 was added gene: PACS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PACS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OTUD6B |
Zornitza Stark gene: OTUD6B was added gene: OTUD6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OTUD6B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ORC4 |
Zornitza Stark gene: ORC4 was added gene: ORC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ORC4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NUP188 |
Zornitza Stark gene: NUP188 was added gene: NUP188 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NUP188 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NSD2 |
Zornitza Stark gene: NSD2 was added gene: NSD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NSD2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NRXN2 |
Zornitza Stark gene: NRXN2 was added gene: NRXN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NRXN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NR4A2 |
Zornitza Stark gene: NR4A2 was added gene: NR4A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NR4A2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NEXMIF |
Zornitza Stark gene: NEXMIF was added gene: NEXMIF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NEXMIF was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NCKAP1 |
Zornitza Stark gene: NCKAP1 was added gene: NCKAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NCKAP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NANS |
Zornitza Stark gene: NANS was added gene: NANS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NANS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NACC1 |
Zornitza Stark gene: NACC1 was added gene: NACC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NACC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NAA15 |
Zornitza Stark gene: NAA15 was added gene: NAA15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NAA15 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MYMK |
Zornitza Stark gene: MYMK was added gene: MYMK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MYMK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTOR |
Zornitza Stark gene: MTOR was added gene: MTOR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTOR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MSMO1 |
Zornitza Stark gene: MSMO1 was added gene: MSMO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MSMO1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MSL3 |
Zornitza Stark gene: MSL3 was added gene: MSL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MSL3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MICU1 |
Zornitza Stark gene: MICU1 was added gene: MICU1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MICU1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MFF |
Zornitza Stark gene: MFF was added gene: MFF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MFF was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MED25 |
Zornitza Stark gene: MED25 was added gene: MED25 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MED25 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MED13 |
Zornitza Stark gene: MED13 was added gene: MED13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MED13 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MDH2 |
Zornitza Stark gene: MDH2 was added gene: MDH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MDH2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MBOAT7 |
Zornitza Stark gene: MBOAT7 was added gene: MBOAT7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MBOAT7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAP1B |
Zornitza Stark gene: MAP1B was added gene: MAP1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAP1B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAF |
Zornitza Stark gene: MAF was added gene: MAF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAF was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MADD |
Zornitza Stark gene: MADD was added gene: MADD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MADD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAB21L2 |
Zornitza Stark gene: MAB21L2 was added gene: MAB21L2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAB21L2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LONP1 |
Zornitza Stark gene: LONP1 was added gene: LONP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LONP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LNPK |
Zornitza Stark gene: LNPK was added gene: LNPK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LNPK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LNP1 |
Zornitza Stark gene: LNP1 was added gene: LNP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LNP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LINS1 |
Zornitza Stark gene: LINS1 was added gene: LINS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LINS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LGI4 |
Zornitza Stark gene: LGI4 was added gene: LGI4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LGI4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LARS2 |
Zornitza Stark gene: LARS2 was added gene: LARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LARS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LARGE1 |
Zornitza Stark gene: LARGE1 was added gene: LARGE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LARGE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KNL1 |
Zornitza Stark gene: KNL1 was added gene: KNL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KNL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KMT2E |
Zornitza Stark gene: KMT2E was added gene: KMT2E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KMT2E was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KLHL7 |
Zornitza Stark gene: KLHL7 was added gene: KLHL7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KLHL7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KLF7 |
Zornitza Stark gene: KLF7 was added gene: KLF7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KLF7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF5C |
Zornitza Stark gene: KIF5C was added gene: KIF5C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF5C was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF4A |
Zornitza Stark gene: KIF4A was added gene: KIF4A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF4A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF16B |
Zornitza Stark gene: KIF16B was added gene: KIF16B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF16B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF14 |
Zornitza Stark gene: KIF14 was added gene: KIF14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIDINS220 |
Zornitza Stark gene: KIDINS220 was added gene: KIDINS220 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIDINS220 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIAA1109 |
Zornitza Stark gene: KIAA1109 was added gene: KIAA1109 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIAA1109 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIAA0586 |
Zornitza Stark gene: KIAA0586 was added gene: KIAA0586 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIAA0586 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KDM5B |
Zornitza Stark gene: KDM5B was added gene: KDM5B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KDM5B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KDM1A |
Zornitza Stark gene: KDM1A was added gene: KDM1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KDM1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCTD3 |
Zornitza Stark gene: KCTD3 was added gene: KCTD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCTD3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNQ5 |
Zornitza Stark gene: KCNQ5 was added gene: KCNQ5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNQ5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNQ3 |
Zornitza Stark gene: KCNQ3 was added gene: KCNQ3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNQ3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNMA1 |
Zornitza Stark gene: KCNMA1 was added gene: KCNMA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNMA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNJ6 |
Zornitza Stark gene: KCNJ6 was added gene: KCNJ6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNJ6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNH1 |
Zornitza Stark gene: KCNH1 was added gene: KCNH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNH1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNC1 |
Zornitza Stark gene: KCNC1 was added gene: KCNC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNA2 |
Zornitza Stark gene: KCNA2 was added gene: KCNA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KAT5 |
Zornitza Stark gene: KAT5 was added gene: KAT5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KAT5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ITPA |
Zornitza Stark gene: ITPA was added gene: ITPA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ITPA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ISCA2 |
Zornitza Stark gene: ISCA2 was added gene: ISCA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ISCA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IRF2BPL |
Zornitza Stark gene: IRF2BPL was added gene: IRF2BPL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IRF2BPL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | INTS8 |
Zornitza Stark gene: INTS8 was added gene: INTS8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: INTS8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | INTS1 |
Zornitza Stark gene: INTS1 was added gene: INTS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: INTS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | INPP5K |
Zornitza Stark gene: INPP5K was added gene: INPP5K was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: INPP5K was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IARS |
Zornitza Stark gene: IARS was added gene: IARS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IARS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HNRNPK |
Zornitza Stark gene: HNRNPK was added gene: HNRNPK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HNRNPK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HNRNPH2 |
Zornitza Stark gene: HNRNPH2 was added gene: HNRNPH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HNRNPH2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HIST1H4C |
Zornitza Stark gene: HIST1H4C was added gene: HIST1H4C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HIST1H4C was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HIST1H1E |
Zornitza Stark gene: HIST1H1E was added gene: HIST1H1E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HIST1H1E was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HERC1 |
Zornitza Stark gene: HERC1 was added gene: HERC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HERC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HARS2 |
Zornitza Stark gene: HARS2 was added gene: HARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HARS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HADH |
Zornitza Stark gene: HADH was added gene: HADH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HADH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HACE1 |
Zornitza Stark gene: HACE1 was added gene: HACE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HACE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | H3F3B |
Zornitza Stark gene: H3F3B was added gene: H3F3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: H3F3B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | H3F3A |
Zornitza Stark gene: H3F3A was added gene: H3F3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: H3F3A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GTPBP3 |
Zornitza Stark gene: GTPBP3 was added gene: GTPBP3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GTPBP3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GTPBP2 |
Zornitza Stark gene: GTPBP2 was added gene: GTPBP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GTPBP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GTF3C3 |
Zornitza Stark gene: GTF3C3 was added gene: GTF3C3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GTF3C3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GTF2H5 |
Zornitza Stark gene: GTF2H5 was added gene: GTF2H5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GTF2H5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GRID2 |
Zornitza Stark gene: GRID2 was added gene: GRID2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRID2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GRIA4 |
Zornitza Stark gene: GRIA4 was added gene: GRIA4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRIA4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GPT2 |
Zornitza Stark gene: GPT2 was added gene: GPT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GPT2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GPC3 |
Zornitza Stark gene: GPC3 was added gene: GPC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GPC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GPAA1 |
Zornitza Stark gene: GPAA1 was added gene: GPAA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GPAA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GNAI1 |
Zornitza Stark gene: GNAI1 was added gene: GNAI1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GNAI1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GLIS3 |
Zornitza Stark gene: GLIS3 was added gene: GLIS3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GLIS3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GEMIN4 |
Zornitza Stark gene: GEMIN4 was added gene: GEMIN4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GEMIN4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GCH1 |
Zornitza Stark gene: GCH1 was added gene: GCH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GCH1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GALC |
Zornitza Stark gene: GALC was added gene: GALC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GALC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GABRB2 |
Zornitza Stark gene: GABRB2 was added gene: GABRB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GABRB2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FZD3 |
Zornitza Stark gene: FZD3 was added gene: FZD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FZD3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FTCD |
Zornitza Stark gene: FTCD was added gene: FTCD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FTCD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FLVCR2 |
Zornitza Stark gene: FLVCR2 was added gene: FLVCR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FLVCR2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FIBP |
Zornitza Stark gene: FIBP was added gene: FIBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FIBP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FGF12 |
Zornitza Stark gene: FGF12 was added gene: FGF12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FGF12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FDXR |
Zornitza Stark gene: FDXR was added gene: FDXR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FDXR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FBXO11 |
Zornitza Stark gene: FBXO11 was added gene: FBXO11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FBXO11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | FAR1 |
Zornitza Stark gene: FAR1 was added gene: FAR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: FAR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EXTL3 |
Zornitza Stark gene: EXTL3 was added gene: EXTL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EXTL3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ETHE1 |
Zornitza Stark gene: ETHE1 was added gene: ETHE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ETHE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ETFDH |
Zornitza Stark gene: ETFDH was added gene: ETFDH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ETFDH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ETFB |
Zornitza Stark gene: ETFB was added gene: ETFB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ETFB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ETFA |
Zornitza Stark gene: ETFA was added gene: ETFA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ETFA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EP300 |
Zornitza Stark gene: EP300 was added gene: EP300 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EP300 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EML1 |
Zornitza Stark gene: EML1 was added gene: EML1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EML1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ELP2 |
Zornitza Stark gene: ELP2 was added gene: ELP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ELP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EFNB2 |
Zornitza Stark gene: EFNB2 was added gene: EFNB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EFNB2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EED |
Zornitza Stark gene: EED was added gene: EED was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EED was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EDNRB |
Zornitza Stark gene: EDNRB was added gene: EDNRB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EDNRB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | EBF3 |
Zornitza Stark gene: EBF3 was added gene: EBF3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: EBF3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DSCAM |
Zornitza Stark gene: DSCAM was added gene: DSCAM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DSCAM was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DPM2 |
Zornitza Stark gene: DPM2 was added gene: DPM2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DPM2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DPF2 |
Zornitza Stark gene: DPF2 was added gene: DPF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DPF2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DOLK |
Zornitza Stark gene: DOLK was added gene: DOLK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DOLK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DOCK8 |
Zornitza Stark gene: DOCK8 was added gene: DOCK8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DOCK8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DOCK3 |
Zornitza Stark gene: DOCK3 was added gene: DOCK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DOCK3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DNM1 |
Zornitza Stark gene: DNM1 was added gene: DNM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DNM1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DNAJC3 |
Zornitza Stark gene: DNAJC3 was added gene: DNAJC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DNAJC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DMD |
Zornitza Stark gene: DMD was added gene: DMD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DMD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DLG4 |
Zornitza Stark gene: DLG4 was added gene: DLG4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DLG4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DIAPH1 |
Zornitza Stark gene: DIAPH1 was added gene: DIAPH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DIAPH1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | DHX30 |
Zornitza Stark gene: DHX30 was added gene: DHX30 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: DHX30 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CWC27 |
Zornitza Stark gene: CWC27 was added gene: CWC27 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CWC27 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CUX2 |
Zornitza Stark gene: CUX2 was added gene: CUX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CUX2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CSNK2B |
Zornitza Stark gene: CSNK2B was added gene: CSNK2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CSNK2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CSNK2A1 |
Zornitza Stark gene: CSNK2A1 was added gene: CSNK2A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CSNK2A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CRB2 |
Zornitza Stark gene: CRB2 was added gene: CRB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CRB2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CP |
Zornitza Stark gene: CP was added gene: CP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COQ8A |
Zornitza Stark gene: COQ8A was added gene: COQ8A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COQ8A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COQ5 |
Zornitza Stark gene: COQ5 was added gene: COQ5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COQ5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COQ4 |
Zornitza Stark gene: COQ4 was added gene: COQ4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COQ4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COLEC10 |
Zornitza Stark gene: COLEC10 was added gene: COLEC10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COLEC10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | COA3 |
Zornitza Stark gene: COA3 was added gene: COA3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: COA3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CNTNAP1 |
Zornitza Stark gene: CNTNAP1 was added gene: CNTNAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CNTNAP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CNTN3 |
Zornitza Stark gene: CNTN3 was added gene: CNTN3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CNTN3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CNOT3 |
Zornitza Stark gene: CNOT3 was added gene: CNOT3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CNOT3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLTC |
Zornitza Stark gene: CLTC was added gene: CLTC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLTC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLPP |
Zornitza Stark gene: CLPP was added gene: CLPP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLPP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLPB |
Zornitza Stark gene: CLPB was added gene: CLPB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLPB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CLP1 |
Zornitza Stark gene: CLP1 was added gene: CLP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CKAP2L |
Zornitza Stark gene: CKAP2L was added gene: CKAP2L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CKAP2L was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CIT |
Zornitza Stark gene: CIT was added gene: CIT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CIT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CISD2 |
Zornitza Stark gene: CISD2 was added gene: CISD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CISD2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CIC |
Zornitza Stark gene: CIC was added gene: CIC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CIC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CHD4 |
Zornitza Stark gene: CHD4 was added gene: CHD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CHD4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CEP83 |
Zornitza Stark gene: CEP83 was added gene: CEP83 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CEP83 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CENPF |
Zornitza Stark gene: CENPF was added gene: CENPF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CENPF was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDT1 |
Zornitza Stark gene: CDT1 was added gene: CDT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDK5R1 |
Zornitza Stark gene: CDK5R1 was added gene: CDK5R1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDK5R1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDK13 |
Zornitza Stark gene: CDK13 was added gene: CDK13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDK13 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDK10 |
Zornitza Stark gene: CDK10 was added gene: CDK10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDK10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CDH11 |
Zornitza Stark gene: CDH11 was added gene: CDH11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CDH11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CCDC88A |
Zornitza Stark gene: CCDC88A was added gene: CCDC88A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CCDC88A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CCDC8 |
Zornitza Stark gene: CCDC8 was added gene: CCDC8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CCDC8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CAMK2B |
Zornitza Stark gene: CAMK2B was added gene: CAMK2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CAMK2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | CAMK2A |
Zornitza Stark gene: CAMK2A was added gene: CAMK2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CAMK2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | C3orf58 |
Zornitza Stark gene: C3orf58 was added gene: C3orf58 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: C3orf58 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | C2CD3 |
Zornitza Stark gene: C2CD3 was added gene: C2CD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: C2CD3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | C12orf4 |
Zornitza Stark gene: C12orf4 was added gene: C12orf4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: C12orf4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | BRPF1 |
Zornitza Stark gene: BRPF1 was added gene: BRPF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BRPF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | BRF1 |
Zornitza Stark gene: BRF1 was added gene: BRF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BRF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | BRD4 |
Zornitza Stark gene: BRD4 was added gene: BRD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BRD4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | BRAT1 |
Zornitza Stark gene: BRAT1 was added gene: BRAT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BRAT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | BPTF |
Zornitza Stark gene: BPTF was added gene: BPTF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BPTF was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | BCKDK |
Zornitza Stark gene: BCKDK was added gene: BCKDK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: BCKDK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | B4GALNT1 |
Zornitza Stark gene: B4GALNT1 was added gene: B4GALNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: B4GALNT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | B3GLCT |
Zornitza Stark gene: B3GLCT was added gene: B3GLCT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: B3GLCT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ATP6V1B2 |
Zornitza Stark gene: ATP6V1B2 was added gene: ATP6V1B2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ATP6V1B2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ATM |
Zornitza Stark gene: ATM was added gene: ATM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ATM was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ATAD3A |
Zornitza Stark gene: ATAD3A was added gene: ATAD3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ATAD3A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ASXL2 |
Zornitza Stark gene: ASXL2 was added gene: ASXL2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ASXL2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ASMT |
Zornitza Stark gene: ASMT was added gene: ASMT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ASMT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ARV1 |
Zornitza Stark gene: ARV1 was added gene: ARV1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARV1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ARSB |
Zornitza Stark gene: ARSB was added gene: ARSB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARSB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ARSA |
Zornitza Stark gene: ARSA was added gene: ARSA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARSA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ARMC9 |
Zornitza Stark gene: ARMC9 was added gene: ARMC9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARMC9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ARL13B |
Zornitza Stark gene: ARL13B was added gene: ARL13B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARL13B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ARID2 |
Zornitza Stark gene: ARID2 was added gene: ARID2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARID2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ARCN1 |
Zornitza Stark gene: ARCN1 was added gene: ARCN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARCN1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | APTX |
Zornitza Stark gene: APTX was added gene: APTX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: APTX was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | APOPT1 |
Zornitza Stark gene: APOPT1 was added gene: APOPT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: APOPT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AP3B2 |
Zornitza Stark gene: AP3B2 was added gene: AP3B2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AP3B2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ANKRD11 |
Zornitza Stark gene: ANKRD11 was added gene: ANKRD11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ANKRD11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ANKH |
Zornitza Stark gene: ANKH was added gene: ANKH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ANKH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ALS2 |
Zornitza Stark gene: ALS2 was added gene: ALS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ALS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ALMS1 |
Zornitza Stark gene: ALMS1 was added gene: ALMS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ALMS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ALG9 |
Zornitza Stark gene: ALG9 was added gene: ALG9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ALG9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ALG8 |
Zornitza Stark gene: ALG8 was added gene: ALG8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ALG8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ALG14 |
Zornitza Stark gene: ALG14 was added gene: ALG14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ALG14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AKAP6 |
Zornitza Stark gene: AKAP6 was added gene: AKAP6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AKAP6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AHDC1 |
Zornitza Stark gene: AHDC1 was added gene: AHDC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AHDC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AGPS |
Zornitza Stark gene: AGPS was added gene: AGPS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AGPS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AFG3L2 |
Zornitza Stark gene: AFG3L2 was added gene: AFG3L2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AFG3L2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AFF4 |
Zornitza Stark gene: AFF4 was added gene: AFF4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AFF4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AFF3 |
Zornitza Stark gene: AFF3 was added gene: AFF3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AFF3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ADGRG1 |
Zornitza Stark gene: ADGRG1 was added gene: ADGRG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ADGRG1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ACTL6A |
Zornitza Stark gene: ACTL6A was added gene: ACTL6A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ACTL6A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ACAD9 |
Zornitza Stark gene: ACAD9 was added gene: ACAD9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ACAD9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AARS |
Zornitza Stark gene: AARS was added gene: AARS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AARS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | AAAS |
Zornitza Stark gene: AAAS was added gene: AAAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: AAAS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZSWIM6 |
Zornitza Stark gene: ZSWIM6 was added gene: ZSWIM6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZSWIM6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNHIT6 |
Zornitza Stark gene: ZNHIT6 was added gene: ZNHIT6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNHIT6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNF81 |
Zornitza Stark gene: ZNF81 was added gene: ZNF81 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF81 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNF804A |
Zornitza Stark gene: ZNF804A was added gene: ZNF804A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF804A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNF711 |
Zornitza Stark gene: ZNF711 was added gene: ZNF711 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF711 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNF674 |
Zornitza Stark gene: ZNF674 was added gene: ZNF674 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF674 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNF507 |
Zornitza Stark gene: ZNF507 was added gene: ZNF507 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF507 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNF423 |
Zornitza Stark gene: ZNF423 was added gene: ZNF423 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF423 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNF41 |
Zornitza Stark gene: ZNF41 was added gene: ZNF41 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF41 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZNF335 |
Zornitza Stark gene: ZNF335 was added gene: ZNF335 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF335 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZMYND11 |
Zornitza Stark gene: ZMYND11 was added gene: ZMYND11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZMYND11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZMYM3 |
Zornitza Stark gene: ZMYM3 was added gene: ZMYM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZMYM3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZIC2 |
Zornitza Stark gene: ZIC2 was added gene: ZIC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZIC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZFYVE26 |
Zornitza Stark gene: ZFYVE26 was added gene: ZFYVE26 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZFYVE26 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZFP57 |
Zornitza Stark gene: ZFP57 was added gene: ZFP57 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZFP57 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZEB2 |
Zornitza Stark gene: ZEB2 was added gene: ZEB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZEB2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZDHHC9 |
Zornitza Stark gene: ZDHHC9 was added gene: ZDHHC9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZDHHC9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZDHHC15 |
Zornitza Stark gene: ZDHHC15 was added gene: ZDHHC15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZDHHC15 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZCCHC12 |
Zornitza Stark gene: ZCCHC12 was added gene: ZCCHC12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZCCHC12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZC4H2 |
Zornitza Stark gene: ZC4H2 was added gene: ZC4H2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZC4H2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZC3H14 |
Zornitza Stark gene: ZC3H14 was added gene: ZC3H14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZC3H14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZBTB24 |
Zornitza Stark gene: ZBTB24 was added gene: ZBTB24 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZBTB24 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZBTB20 |
Zornitza Stark gene: ZBTB20 was added gene: ZBTB20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZBTB20 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZBTB18 |
Zornitza Stark gene: ZBTB18 was added gene: ZBTB18 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZBTB18 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ZBTB16 |
Zornitza Stark gene: ZBTB16 was added gene: ZBTB16 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZBTB16 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | YAP1 |
Zornitza Stark gene: YAP1 was added gene: YAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: YAP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | XYLT1 |
Zornitza Stark gene: XYLT1 was added gene: XYLT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: XYLT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | XPNPEP3 |
Zornitza Stark gene: XPNPEP3 was added gene: XPNPEP3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: XPNPEP3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | XPA |
Zornitza Stark gene: XPA was added gene: XPA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: XPA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WWOX |
Zornitza Stark gene: WWOX was added gene: WWOX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WWOX was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WRAP53 |
Zornitza Stark gene: WRAP53 was added gene: WRAP53 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WRAP53 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WNT5A |
Zornitza Stark gene: WNT5A was added gene: WNT5A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WNT5A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WNT1 |
Zornitza Stark gene: WNT1 was added gene: WNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WNT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WFS1 |
Zornitza Stark gene: WFS1 was added gene: WFS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WFS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR81 |
Zornitza Stark gene: WDR81 was added gene: WDR81 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR81 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR62 |
Zornitza Stark gene: WDR62 was added gene: WDR62 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR62 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR45 |
Zornitza Stark gene: WDR45 was added gene: WDR45 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR45 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR34 |
Zornitza Stark gene: WDR34 was added gene: WDR34 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR34 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR26 |
Zornitza Stark gene: WDR26 was added gene: WDR26 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR26 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR19 |
Zornitza Stark gene: WDR19 was added gene: WDR19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR19 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR13 |
Zornitza Stark gene: WDR13 was added gene: WDR13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR13 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDR11 |
Zornitza Stark gene: WDR11 was added gene: WDR11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDR11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WDPCP |
Zornitza Stark gene: WDPCP was added gene: WDPCP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WDPCP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VRK1 |
Zornitza Stark gene: VRK1 was added gene: VRK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VRK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VPS53 |
Zornitza Stark gene: VPS53 was added gene: VPS53 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VPS53 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VPS45 |
Zornitza Stark gene: VPS45 was added gene: VPS45 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VPS45 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VPS37A |
Zornitza Stark gene: VPS37A was added gene: VPS37A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VPS37A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VPS33B |
Zornitza Stark gene: VPS33B was added gene: VPS33B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VPS33B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VPS13B |
Zornitza Stark gene: VPS13B was added gene: VPS13B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VPS13B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VLDLR |
Zornitza Stark gene: VLDLR was added gene: VLDLR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VLDLR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VIPAS39 |
Zornitza Stark gene: VIPAS39 was added gene: VIPAS39 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VIPAS39 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | VANGL1 |
Zornitza Stark gene: VANGL1 was added gene: VANGL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: VANGL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | USP9X |
Zornitza Stark gene: USP9X was added gene: USP9X was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: USP9X was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UROC1 |
Zornitza Stark gene: UROC1 was added gene: UROC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UROC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UQCRQ |
Zornitza Stark gene: UQCRQ was added gene: UQCRQ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UQCRQ was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UQCRC2 |
Zornitza Stark gene: UQCRC2 was added gene: UQCRC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UQCRC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UQCRB |
Zornitza Stark gene: UQCRB was added gene: UQCRB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UQCRB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UQCC2 |
Zornitza Stark gene: UQCC2 was added gene: UQCC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UQCC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UPF3B |
Zornitza Stark gene: UPF3B was added gene: UPF3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UPF3B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UPB1 |
Zornitza Stark gene: UPB1 was added gene: UPB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UPB1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UNC80 |
Zornitza Stark gene: UNC80 was added gene: UNC80 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UNC80 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UNC13D |
Zornitza Stark gene: UNC13D was added gene: UNC13D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UNC13D was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UMPS |
Zornitza Stark gene: UMPS was added gene: UMPS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UMPS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UGT1A1 |
Zornitza Stark gene: UGT1A1 was added gene: UGT1A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UGT1A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UCHL1 |
Zornitza Stark gene: UCHL1 was added gene: UCHL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UCHL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UBR1 |
Zornitza Stark gene: UBR1 was added gene: UBR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UBR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UBE3B |
Zornitza Stark gene: UBE3B was added gene: UBE3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UBE3B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UBE3A |
Zornitza Stark gene: UBE3A was added gene: UBE3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UBE3A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | UBE2A |
Zornitza Stark gene: UBE2A was added gene: UBE2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: UBE2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TWIST1 |
Zornitza Stark gene: TWIST1 was added gene: TWIST1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TWIST1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUSC3 |
Zornitza Stark gene: TUSC3 was added gene: TUSC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUSC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUFM |
Zornitza Stark gene: TUFM was added gene: TUFM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUFM was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBGCP6 |
Zornitza Stark gene: TUBGCP6 was added gene: TUBGCP6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBGCP6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBB4A |
Zornitza Stark gene: TUBB4A was added gene: TUBB4A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBB4A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBB3 |
Zornitza Stark gene: TUBB3 was added gene: TUBB3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBB3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBB2B |
Zornitza Stark gene: TUBB2B was added gene: TUBB2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBB2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBA8 |
Zornitza Stark gene: TUBA8 was added gene: TUBA8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBA8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TUBA1A |
Zornitza Stark gene: TUBA1A was added gene: TUBA1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TUBA1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TTR |
Zornitza Stark gene: TTR was added gene: TTR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TTR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TTI2 |
Zornitza Stark gene: TTI2 was added gene: TTI2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TTI2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TTC8 |
Zornitza Stark gene: TTC8 was added gene: TTC8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TTC8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TTC37 |
Zornitza Stark gene: TTC37 was added gene: TTC37 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TTC37 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TTC21B |
Zornitza Stark gene: TTC21B was added gene: TTC21B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TTC21B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TTC19 |
Zornitza Stark gene: TTC19 was added gene: TTC19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TTC19 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSPAN7 |
Zornitza Stark gene: TSPAN7 was added gene: TSPAN7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSPAN7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSHR |
Zornitza Stark gene: TSHR was added gene: TSHR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSHR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSHB |
Zornitza Stark gene: TSHB was added gene: TSHB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSHB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSFM |
Zornitza Stark gene: TSFM was added gene: TSFM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSFM was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSEN54 |
Zornitza Stark gene: TSEN54 was added gene: TSEN54 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSEN54 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSEN34 |
Zornitza Stark gene: TSEN34 was added gene: TSEN34 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSEN34 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSEN2 |
Zornitza Stark gene: TSEN2 was added gene: TSEN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSEN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSC2 |
Zornitza Stark gene: TSC2 was added gene: TSC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TSC1 |
Zornitza Stark gene: TSC1 was added gene: TSC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TSC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRNT1 |
Zornitza Stark gene: TRNT1 was added gene: TRNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRNT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRMT10A |
Zornitza Stark gene: TRMT10A was added gene: TRMT10A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRMT10A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRIP12 |
Zornitza Stark gene: TRIP12 was added gene: TRIP12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRIP12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRIO |
Zornitza Stark gene: TRIO was added gene: TRIO was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRIO was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRIM32 |
Zornitza Stark gene: TRIM32 was added gene: TRIM32 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRIM32 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRHR |
Zornitza Stark gene: TRHR was added gene: TRHR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRHR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TREX1 |
Zornitza Stark gene: TREX1 was added gene: TREX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TREX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TREM2 |
Zornitza Stark gene: TREM2 was added gene: TREM2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TREM2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRAPPC9 |
Zornitza Stark gene: TRAPPC9 was added gene: TRAPPC9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRAPPC9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TRAPPC11 |
Zornitza Stark gene: TRAPPC11 was added gene: TRAPPC11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TRAPPC11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TPP1 |
Zornitza Stark gene: TPP1 was added gene: TPP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TPP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TPK1 |
Zornitza Stark gene: TPK1 was added gene: TPK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TPK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TPH2 |
Zornitza Stark gene: TPH2 was added gene: TPH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TPH2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TP63 |
Zornitza Stark gene: TP63 was added gene: TP63 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TP63 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TNIK |
Zornitza Stark gene: TNIK was added gene: TNIK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TNIK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM70 |
Zornitza Stark gene: TMEM70 was added gene: TMEM70 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM70 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM67 |
Zornitza Stark gene: TMEM67 was added gene: TMEM67 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM67 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM5 |
Zornitza Stark gene: TMEM5 was added gene: TMEM5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM240 |
Zornitza Stark gene: TMEM240 was added gene: TMEM240 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM240 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM237 |
Zornitza Stark gene: TMEM237 was added gene: TMEM237 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM237 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM231 |
Zornitza Stark gene: TMEM231 was added gene: TMEM231 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM231 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM216 |
Zornitza Stark gene: TMEM216 was added gene: TMEM216 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM216 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMEM165 |
Zornitza Stark gene: TMEM165 was added gene: TMEM165 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMEM165 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TMCO1 |
Zornitza Stark gene: TMCO1 was added gene: TMCO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TMCO1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TKT |
Zornitza Stark gene: TKT was added gene: TKT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TKT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TINF2 |
Zornitza Stark gene: TINF2 was added gene: TINF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TINF2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TIMM8A |
Zornitza Stark gene: TIMM8A was added gene: TIMM8A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TIMM8A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | THRB |
Zornitza Stark gene: THRB was added gene: THRB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: THRB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | THOC6 |
Zornitza Stark gene: THOC6 was added gene: THOC6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: THOC6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | THOC2 |
Zornitza Stark gene: THOC2 was added gene: THOC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: THOC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TH |
Zornitza Stark gene: TH was added gene: TH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TGIF1 |
Zornitza Stark gene: TGIF1 was added gene: TGIF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TGIF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TGFBR2 |
Zornitza Stark gene: TGFBR2 was added gene: TGFBR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TGFBR2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TGFBR1 |
Zornitza Stark gene: TGFBR1 was added gene: TGFBR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TGFBR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TG |
Zornitza Stark gene: TG was added gene: TG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TFG |
Zornitza Stark gene: TFG was added gene: TFG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TFG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TFAP2B |
Zornitza Stark gene: TFAP2B was added gene: TFAP2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TFAP2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TFAP2A |
Zornitza Stark gene: TFAP2A was added gene: TFAP2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TFAP2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TERT |
Zornitza Stark gene: TERT was added gene: TERT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TERT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TECR |
Zornitza Stark gene: TECR was added gene: TECR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TECR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TECPR2 |
Zornitza Stark gene: TECPR2 was added gene: TECPR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TECPR2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TDP2 |
Zornitza Stark gene: TDP2 was added gene: TDP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TDP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TDGF1 |
Zornitza Stark gene: TDGF1 was added gene: TDGF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TDGF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TCTN3 |
Zornitza Stark gene: TCTN3 was added gene: TCTN3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TCTN3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TCTN2 |
Zornitza Stark gene: TCTN2 was added gene: TCTN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TCTN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TCN2 |
Zornitza Stark gene: TCN2 was added gene: TCN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TCN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TCF4 |
Zornitza Stark gene: TCF4 was added gene: TCF4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TCF4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBX1 |
Zornitza Stark gene: TBX1 was added gene: TBX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBL1XR1 |
Zornitza Stark gene: TBL1XR1 was added gene: TBL1XR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBL1XR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBCE |
Zornitza Stark gene: TBCE was added gene: TBCE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBCE was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBC1D7 |
Zornitza Stark gene: TBC1D7 was added gene: TBC1D7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBC1D7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBC1D24 |
Zornitza Stark gene: TBC1D24 was added gene: TBC1D24 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBC1D24 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TBC1D20 |
Zornitza Stark gene: TBC1D20 was added gene: TBC1D20 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TBC1D20 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TAT |
Zornitza Stark gene: TAT was added gene: TAT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TAF2 |
Zornitza Stark gene: TAF2 was added gene: TAF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAF2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TAF1 |
Zornitza Stark gene: TAF1 was added gene: TAF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TAF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | TACO1 |
Zornitza Stark gene: TACO1 was added gene: TACO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TACO1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SZT2 |
Zornitza Stark gene: SZT2 was added gene: SZT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SZT2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SYT14 |
Zornitza Stark gene: SYT14 was added gene: SYT14 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SYT14 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SYP |
Zornitza Stark gene: SYP was added gene: SYP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SYP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SYNJ1 |
Zornitza Stark gene: SYNJ1 was added gene: SYNJ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SYNJ1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SYNGAP1 |
Zornitza Stark gene: SYNGAP1 was added gene: SYNGAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SYNGAP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SYN1 |
Zornitza Stark gene: SYN1 was added gene: SYN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SYN1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SUOX |
Zornitza Stark gene: SUOX was added gene: SUOX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SUOX was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SUMF1 |
Zornitza Stark gene: SUMF1 was added gene: SUMF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SUMF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SUCLG1 |
Zornitza Stark gene: SUCLG1 was added gene: SUCLG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SUCLG1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SUCLA2 |
Zornitza Stark gene: SUCLA2 was added gene: SUCLA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SUCLA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STXBP1 |
Zornitza Stark gene: STXBP1 was added gene: STXBP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STXBP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STX11 |
Zornitza Stark gene: STX11 was added gene: STX11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STX11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STT3B |
Zornitza Stark gene: STT3B was added gene: STT3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STT3B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STT3A |
Zornitza Stark gene: STT3A was added gene: STT3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STT3A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STRA6 |
Zornitza Stark gene: STRA6 was added gene: STRA6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STRA6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STK3 |
Zornitza Stark gene: STK3 was added gene: STK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STK3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STIL |
Zornitza Stark gene: STIL was added gene: STIL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STIL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STAT5B |
Zornitza Stark gene: STAT5B was added gene: STAT5B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STAT5B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STAMBP |
Zornitza Stark gene: STAMBP was added gene: STAMBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STAMBP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | STAC3 |
Zornitza Stark gene: STAC3 was added gene: STAC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: STAC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ST7 |
Zornitza Stark gene: ST7 was added gene: ST7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ST7 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | ST3GAL5 |
Zornitza Stark gene: ST3GAL5 was added gene: ST3GAL5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ST3GAL5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ST3GAL3 |
Zornitza Stark gene: ST3GAL3 was added gene: ST3GAL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ST3GAL3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SSR4 |
Zornitza Stark gene: SSR4 was added gene: SSR4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SSR4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SRPX2 |
Zornitza Stark gene: SRPX2 was added gene: SRPX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SRPX2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SRD5A3 |
Zornitza Stark gene: SRD5A3 was added gene: SRD5A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SRD5A3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SRCAP |
Zornitza Stark gene: SRCAP was added gene: SRCAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SRCAP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPTLC1 |
Zornitza Stark gene: SPTLC1 was added gene: SPTLC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPTLC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPTBN2 |
Zornitza Stark gene: SPTBN2 was added gene: SPTBN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPTBN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPTAN1 |
Zornitza Stark gene: SPTAN1 was added gene: SPTAN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPTAN1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPRED1 |
Zornitza Stark gene: SPRED1 was added gene: SPRED1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPRED1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPR |
Zornitza Stark gene: SPR was added gene: SPR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPINK5 |
Zornitza Stark gene: SPINK5 was added gene: SPINK5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPINK5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPG7 |
Zornitza Stark gene: SPG7 was added gene: SPG7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPG7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPEG |
Zornitza Stark gene: SPEG was added gene: SPEG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPEG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPATA5 |
Zornitza Stark gene: SPATA5 was added gene: SPATA5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPATA5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SPAST |
Zornitza Stark gene: SPAST was added gene: SPAST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SPAST was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SP7 |
Zornitza Stark gene: SP7 was added gene: SP7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SP7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOX5 |
Zornitza Stark gene: SOX5 was added gene: SOX5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOX5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOX3 |
Zornitza Stark gene: SOX3 was added gene: SOX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOX3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOX2 |
Zornitza Stark gene: SOX2 was added gene: SOX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOX2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOX11 |
Zornitza Stark gene: SOX11 was added gene: SOX11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOX11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOX10 |
Zornitza Stark gene: SOX10 was added gene: SOX10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOX10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOST |
Zornitza Stark gene: SOST was added gene: SOST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOST was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOS1 |
Zornitza Stark gene: SOS1 was added gene: SOS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SOBP |
Zornitza Stark gene: SOBP was added gene: SOBP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SOBP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SNRPN |
Zornitza Stark gene: SNRPN was added gene: SNRPN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SNRPN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SNRPB |
Zornitza Stark gene: SNRPB was added gene: SNRPB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SNRPB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SNIP1 |
Zornitza Stark gene: SNIP1 was added gene: SNIP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SNIP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SNAP29 |
Zornitza Stark gene: SNAP29 was added gene: SNAP29 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SNAP29 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMS |
Zornitza Stark gene: SMS was added gene: SMS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMPD1 |
Zornitza Stark gene: SMPD1 was added gene: SMPD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMPD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMOC1 |
Zornitza Stark gene: SMOC1 was added gene: SMOC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMOC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMG6 |
Zornitza Stark gene: SMG6 was added gene: SMG6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMG6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMCHD1 |
Zornitza Stark gene: SMCHD1 was added gene: SMCHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMCHD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMC3 |
Zornitza Stark gene: SMC3 was added gene: SMC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMC1A |
Zornitza Stark gene: SMC1A was added gene: SMC1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMC1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMARCE1 |
Zornitza Stark gene: SMARCE1 was added gene: SMARCE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMARCE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMARCB1 |
Zornitza Stark gene: SMARCB1 was added gene: SMARCB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMARCB1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMARCA4 |
Zornitza Stark gene: SMARCA4 was added gene: SMARCA4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMARCA4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMARCA2 |
Zornitza Stark gene: SMARCA2 was added gene: SMARCA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMARCA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SMAD4 |
Zornitza Stark gene: SMAD4 was added gene: SMAD4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SMAD4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLX4 |
Zornitza Stark gene: SLX4 was added gene: SLX4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLX4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC9A9 |
Zornitza Stark gene: SLC9A9 was added gene: SLC9A9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC9A9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC9A6 |
Zornitza Stark gene: SLC9A6 was added gene: SLC9A6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC9A6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC7A7 |
Zornitza Stark gene: SLC7A7 was added gene: SLC7A7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC7A7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC6A8 |
Zornitza Stark gene: SLC6A8 was added gene: SLC6A8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC6A8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC6A4 |
Zornitza Stark gene: SLC6A4 was added gene: SLC6A4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC6A4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC6A3 |
Zornitza Stark gene: SLC6A3 was added gene: SLC6A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC6A3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC6A19 |
Zornitza Stark gene: SLC6A19 was added gene: SLC6A19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC6A19 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC6A17 |
Zornitza Stark gene: SLC6A17 was added gene: SLC6A17 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC6A17 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC5A5 |
Zornitza Stark gene: SLC5A5 was added gene: SLC5A5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC5A5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC5A2 |
Zornitza Stark gene: SLC5A2 was added gene: SLC5A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC5A2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC4A4 |
Zornitza Stark gene: SLC4A4 was added gene: SLC4A4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC4A4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC39A4 |
Zornitza Stark gene: SLC39A4 was added gene: SLC39A4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC39A4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC35C1 |
Zornitza Stark gene: SLC35C1 was added gene: SLC35C1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC35C1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC35A3 |
Zornitza Stark gene: SLC35A3 was added gene: SLC35A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC35A3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC35A2 |
Zornitza Stark gene: SLC35A2 was added gene: SLC35A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC35A2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC35A1 |
Zornitza Stark gene: SLC35A1 was added gene: SLC35A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC35A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC33A1 |
Zornitza Stark gene: SLC33A1 was added gene: SLC33A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC33A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC2A2 |
Zornitza Stark gene: SLC2A2 was added gene: SLC2A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC2A2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC2A10 |
Zornitza Stark gene: SLC2A10 was added gene: SLC2A10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC2A10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC2A1 |
Zornitza Stark gene: SLC2A1 was added gene: SLC2A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC2A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC29A3 |
Zornitza Stark gene: SLC29A3 was added gene: SLC29A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC29A3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A4 |
Zornitza Stark gene: SLC25A4 was added gene: SLC25A4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A22 |
Zornitza Stark gene: SLC25A22 was added gene: SLC25A22 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A22 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A19 |
Zornitza Stark gene: SLC25A19 was added gene: SLC25A19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A19 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A15 |
Zornitza Stark gene: SLC25A15 was added gene: SLC25A15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A15 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A13 |
Zornitza Stark gene: SLC25A13 was added gene: SLC25A13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A13 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A12 |
Zornitza Stark gene: SLC25A12 was added gene: SLC25A12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC25A1 |
Zornitza Stark gene: SLC25A1 was added gene: SLC25A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC22A5 |
Zornitza Stark gene: SLC22A5 was added gene: SLC22A5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC22A5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC20A2 |
Zornitza Stark gene: SLC20A2 was added gene: SLC20A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC20A2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC1A3 |
Zornitza Stark gene: SLC1A3 was added gene: SLC1A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC1A3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC1A1 |
Zornitza Stark gene: SLC1A1 was added gene: SLC1A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC1A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC19A3 |
Zornitza Stark gene: SLC19A3 was added gene: SLC19A3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC19A3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC19A2 |
Zornitza Stark gene: SLC19A2 was added gene: SLC19A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC19A2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC17A5 |
Zornitza Stark gene: SLC17A5 was added gene: SLC17A5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC17A5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC16A2 |
Zornitza Stark gene: SLC16A2 was added gene: SLC16A2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC16A2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC13A5 |
Zornitza Stark gene: SLC13A5 was added gene: SLC13A5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC13A5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC12A6 |
Zornitza Stark gene: SLC12A6 was added gene: SLC12A6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC12A6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SLC12A1 |
Zornitza Stark gene: SLC12A1 was added gene: SLC12A1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC12A1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SKI |
Zornitza Stark gene: SKI was added gene: SKI was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SKI was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SIX3 |
Zornitza Stark gene: SIX3 was added gene: SIX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SIX3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SIL1 |
Zornitza Stark gene: SIL1 was added gene: SIL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SIL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SHROOM4 |
Zornitza Stark gene: SHROOM4 was added gene: SHROOM4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SHROOM4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SHOC2 |
Zornitza Stark gene: SHOC2 was added gene: SHOC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SHOC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SHH |
Zornitza Stark gene: SHH was added gene: SHH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SHH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SHANK3 |
Zornitza Stark gene: SHANK3 was added gene: SHANK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SHANK3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SHANK2 |
Zornitza Stark gene: SHANK2 was added gene: SHANK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SHANK2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SH3TC2 |
Zornitza Stark gene: SH3TC2 was added gene: SH3TC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SH3TC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SGSH |
Zornitza Stark gene: SGSH was added gene: SGSH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SGSH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SGCA |
Zornitza Stark gene: SGCA was added gene: SGCA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SGCA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SFXN4 |
Zornitza Stark gene: SFXN4 was added gene: SFXN4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SFXN4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SF3B4 |
Zornitza Stark gene: SF3B4 was added gene: SF3B4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SF3B4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SETD5 |
Zornitza Stark gene: SETD5 was added gene: SETD5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SETD5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SETD2 |
Zornitza Stark gene: SETD2 was added gene: SETD2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SETD2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SETBP1 |
Zornitza Stark gene: SETBP1 was added gene: SETBP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SETBP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SERAC1 |
Zornitza Stark gene: SERAC1 was added gene: SERAC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SERAC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SEPSECS |
Zornitza Stark gene: SEPSECS was added gene: SEPSECS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SEPSECS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SELENON |
Zornitza Stark gene: SELENON was added gene: SELENON was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SELENON was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SEMA3E |
Zornitza Stark gene: SEMA3E was added gene: SEMA3E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SEMA3E was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SDHD |
Zornitza Stark gene: SDHD was added gene: SDHD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SDHD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SDHAF1 |
Zornitza Stark gene: SDHAF1 was added gene: SDHAF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SDHAF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SDHA |
Zornitza Stark gene: SDHA was added gene: SDHA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SDHA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SDCCAG8 |
Zornitza Stark gene: SDCCAG8 was added gene: SDCCAG8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SDCCAG8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCO2 |
Zornitza Stark gene: SCO2 was added gene: SCO2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCO2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCO1 |
Zornitza Stark gene: SCO1 was added gene: SCO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCO1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCN9A |
Zornitza Stark gene: SCN9A was added gene: SCN9A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCN9A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCN8A |
Zornitza Stark gene: SCN8A was added gene: SCN8A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCN8A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCN2A |
Zornitza Stark gene: SCN2A was added gene: SCN2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCN2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCN1B |
Zornitza Stark gene: SCN1B was added gene: SCN1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCN1B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCN1A |
Zornitza Stark gene: SCN1A was added gene: SCN1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCN1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SCN11A |
Zornitza Stark gene: SCN11A was added gene: SCN11A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SCN11A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SC5D |
Zornitza Stark gene: SC5D was added gene: SC5D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SC5D was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SBF1 |
Zornitza Stark gene: SBF1 was added gene: SBF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SBF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SBDS |
Zornitza Stark gene: SBDS was added gene: SBDS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SBDS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SATB2 |
Zornitza Stark gene: SATB2 was added gene: SATB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SATB2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SARS2 |
Zornitza Stark gene: SARS2 was added gene: SARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SARS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SAMHD1 |
Zornitza Stark gene: SAMHD1 was added gene: SAMHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SAMHD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SALL1 |
Zornitza Stark gene: SALL1 was added gene: SALL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SALL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | SACS |
Zornitza Stark gene: SACS was added gene: SACS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SACS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RTTN |
Zornitza Stark gene: RTTN was added gene: RTTN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RTTN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RTN4IP1 |
Zornitza Stark gene: RTN4IP1 was added gene: RTN4IP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RTN4IP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RRM2B |
Zornitza Stark gene: RRM2B was added gene: RRM2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RRM2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RPS6KA3 |
Zornitza Stark gene: RPS6KA3 was added gene: RPS6KA3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RPS6KA3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RPS28 |
Zornitza Stark gene: RPS28 was added gene: RPS28 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RPS28 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RPS19 |
Zornitza Stark gene: RPS19 was added gene: RPS19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RPS19 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RPL11 |
Zornitza Stark gene: RPL11 was added gene: RPL11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RPL11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RPL10 |
Zornitza Stark gene: RPL10 was added gene: RPL10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RPL10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RPGRIP1L |
Zornitza Stark gene: RPGRIP1L was added gene: RPGRIP1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RPGRIP1L was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ROR2 |
Zornitza Stark gene: ROR2 was added gene: ROR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ROR2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ROGDI |
Zornitza Stark gene: ROGDI was added gene: ROGDI was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ROGDI was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RNU4ATAC |
Zornitza Stark gene: RNU4ATAC was added gene: RNU4ATAC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RNU4ATAC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RNASET2 |
Zornitza Stark gene: RNASET2 was added gene: RNASET2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RNASET2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RNASEH2C |
Zornitza Stark gene: RNASEH2C was added gene: RNASEH2C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RNASEH2C was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RNASEH2B |
Zornitza Stark gene: RNASEH2B was added gene: RNASEH2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RNASEH2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RNASEH2A |
Zornitza Stark gene: RNASEH2A was added gene: RNASEH2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RNASEH2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RMRP |
Zornitza Stark gene: RMRP was added gene: RMRP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RMRP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RMND1 |
Zornitza Stark gene: RMND1 was added gene: RMND1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RMND1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RLIM |
Zornitza Stark gene: RLIM was added gene: RLIM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RLIM was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RIT1 |
Zornitza Stark gene: RIT1 was added gene: RIT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RIT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RIN2 |
Zornitza Stark gene: RIN2 was added gene: RIN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RIN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RFX6 |
Zornitza Stark gene: RFX6 was added gene: RFX6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RFX6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RFT1 |
Zornitza Stark gene: RFT1 was added gene: RFT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RFT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RET |
Zornitza Stark gene: RET was added gene: RET was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RET was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RELN |
Zornitza Stark gene: RELN was added gene: RELN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RELN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RECQL4 |
Zornitza Stark gene: RECQL4 was added gene: RECQL4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RECQL4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RBPJ |
Zornitza Stark gene: RBPJ was added gene: RBPJ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RBPJ was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RBM8A |
Zornitza Stark gene: RBM8A was added gene: RBM8A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RBM8A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RBM28 |
Zornitza Stark gene: RBM28 was added gene: RBM28 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RBM28 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RBM10 |
Zornitza Stark gene: RBM10 was added gene: RBM10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RBM10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RBFOX1 |
Zornitza Stark gene: RBFOX1 was added gene: RBFOX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RBFOX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RBBP8 |
Zornitza Stark gene: RBBP8 was added gene: RBBP8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RBBP8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RARS2 |
Zornitza Stark gene: RARS2 was added gene: RARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RARS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RARB |
Zornitza Stark gene: RARB was added gene: RARB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RARB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAPSN |
Zornitza Stark gene: RAPSN was added gene: RAPSN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAPSN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RANBP2 |
Zornitza Stark gene: RANBP2 was added gene: RANBP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RANBP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAI1 |
Zornitza Stark gene: RAI1 was added gene: RAI1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAI1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAF1 |
Zornitza Stark gene: RAF1 was added gene: RAF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAD21 |
Zornitza Stark gene: RAD21 was added gene: RAD21 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAD21 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAB40AL |
Zornitza Stark gene: RAB40AL was added gene: RAB40AL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAB40AL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAB3GAP2 |
Zornitza Stark gene: RAB3GAP2 was added gene: RAB3GAP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAB3GAP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAB3GAP1 |
Zornitza Stark gene: RAB3GAP1 was added gene: RAB3GAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAB3GAP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAB39B |
Zornitza Stark gene: RAB39B was added gene: RAB39B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAB39B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAB27A |
Zornitza Stark gene: RAB27A was added gene: RAB27A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAB27A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAB23 |
Zornitza Stark gene: RAB23 was added gene: RAB23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAB23 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RAB18 |
Zornitza Stark gene: RAB18 was added gene: RAB18 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RAB18 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | QDPR |
Zornitza Stark gene: QDPR was added gene: QDPR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: QDPR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | QARS |
Zornitza Stark gene: QARS was added gene: QARS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: QARS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PYGL |
Zornitza Stark gene: PYGL was added gene: PYGL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PYGL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PYCR1 |
Zornitza Stark gene: PYCR1 was added gene: PYCR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PYCR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PUS1 |
Zornitza Stark gene: PUS1 was added gene: PUS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PUS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PURA |
Zornitza Stark gene: PURA was added gene: PURA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PURA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PTS |
Zornitza Stark gene: PTS was added gene: PTS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PTS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PTPN11 |
Zornitza Stark gene: PTPN11 was added gene: PTPN11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PTPN11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PTEN |
Zornitza Stark gene: PTEN was added gene: PTEN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PTEN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PTDSS1 |
Zornitza Stark gene: PTDSS1 was added gene: PTDSS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PTDSS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PTCHD1 |
Zornitza Stark gene: PTCHD1 was added gene: PTCHD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PTCHD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PTCH1 |
Zornitza Stark gene: PTCH1 was added gene: PTCH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PTCH1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PSPH |
Zornitza Stark gene: PSPH was added gene: PSPH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PSPH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PSAT1 |
Zornitza Stark gene: PSAT1 was added gene: PSAT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PSAT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PSAP |
Zornitza Stark gene: PSAP was added gene: PSAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PSAP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRX |
Zornitza Stark gene: PRX was added gene: PRX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRX was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | PRSS12 |
Zornitza Stark gene: PRSS12 was added gene: PRSS12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRSS12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRRX1 |
Zornitza Stark gene: PRRX1 was added gene: PRRX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRRX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRPS1 |
Zornitza Stark gene: PRPS1 was added gene: PRPS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRPS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRODH |
Zornitza Stark gene: PRODH was added gene: PRODH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRODH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRKRA |
Zornitza Stark gene: PRKRA was added gene: PRKRA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRKRA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRKDC |
Zornitza Stark gene: PRKDC was added gene: PRKDC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRKDC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRKAR1A |
Zornitza Stark gene: PRKAR1A was added gene: PRKAR1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRKAR1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRICKLE1 |
Zornitza Stark gene: PRICKLE1 was added gene: PRICKLE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRICKLE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRF1 |
Zornitza Stark gene: PRF1 was added gene: PRF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PREPL |
Zornitza Stark gene: PREPL was added gene: PREPL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PREPL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRDM8 |
Zornitza Stark gene: PRDM8 was added gene: PRDM8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRDM8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PQBP1 |
Zornitza Stark gene: PQBP1 was added gene: PQBP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PQBP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPT1 |
Zornitza Stark gene: PPT1 was added gene: PPT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPP2R5D |
Zornitza Stark gene: PPP2R5D was added gene: PPP2R5D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPP2R5D was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPP2R1A |
Zornitza Stark gene: PPP2R1A was added gene: PPP2R1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPP2R1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPOX |
Zornitza Stark gene: PPOX was added gene: PPOX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPOX was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPM1K |
Zornitza Stark gene: PPM1K was added gene: PPM1K was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPM1K was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PPM1D |
Zornitza Stark gene: PPM1D was added gene: PPM1D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PPM1D was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POU1F1 |
Zornitza Stark gene: POU1F1 was added gene: POU1F1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POU1F1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PORCN |
Zornitza Stark gene: PORCN was added gene: PORCN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PORCN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POP1 |
Zornitza Stark gene: POP1 was added gene: POP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PON3 |
Zornitza Stark gene: PON3 was added gene: PON3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PON3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POMT2 |
Zornitza Stark gene: POMT2 was added gene: POMT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POMT2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POMT1 |
Zornitza Stark gene: POMT1 was added gene: POMT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POMT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POMK |
Zornitza Stark gene: POMK was added gene: POMK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POMK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POMGNT2 |
Zornitza Stark gene: POMGNT2 was added gene: POMGNT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POMGNT2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POMGNT1 |
Zornitza Stark gene: POMGNT1 was added gene: POMGNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POMGNT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POLR3B |
Zornitza Stark gene: POLR3B was added gene: POLR3B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POLR3B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POLR3A |
Zornitza Stark gene: POLR3A was added gene: POLR3A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POLR3A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | POC1A |
Zornitza Stark gene: POC1A was added gene: POC1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: POC1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PNPT1 |
Zornitza Stark gene: PNPT1 was added gene: PNPT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PNPT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PNPLA6 |
Zornitza Stark gene: PNPLA6 was added gene: PNPLA6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PNPLA6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PNP |
Zornitza Stark gene: PNP was added gene: PNP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PNP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PNKP |
Zornitza Stark gene: PNKP was added gene: PNKP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PNKP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PMM2 |
Zornitza Stark gene: PMM2 was added gene: PMM2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PMM2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PLP1 |
Zornitza Stark gene: PLP1 was added gene: PLP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PLP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PLOD3 |
Zornitza Stark gene: PLOD3 was added gene: PLOD3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PLOD3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PLCB1 |
Zornitza Stark gene: PLCB1 was added gene: PLCB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PLCB1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PLA2G6 |
Zornitza Stark gene: PLA2G6 was added gene: PLA2G6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PLA2G6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIP5K1B |
Zornitza Stark gene: PIP5K1B was added gene: PIP5K1B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIP5K1B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PINK1 |
Zornitza Stark gene: PINK1 was added gene: PINK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PINK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIK3R2 |
Zornitza Stark gene: PIK3R2 was added gene: PIK3R2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIK3R2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIK3R1 |
Zornitza Stark gene: PIK3R1 was added gene: PIK3R1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIK3R1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIK3CA |
Zornitza Stark gene: PIK3CA was added gene: PIK3CA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIK3CA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGY |
Zornitza Stark gene: PIGY was added gene: PIGY was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGY was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGW |
Zornitza Stark gene: PIGW was added gene: PIGW was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGW was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGV |
Zornitza Stark gene: PIGV was added gene: PIGV was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGV was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGT |
Zornitza Stark gene: PIGT was added gene: PIGT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGO |
Zornitza Stark gene: PIGO was added gene: PIGO was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGO was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGN |
Zornitza Stark gene: PIGN was added gene: PIGN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGL |
Zornitza Stark gene: PIGL was added gene: PIGL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGG |
Zornitza Stark gene: PIGG was added gene: PIGG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIGA |
Zornitza Stark gene: PIGA was added gene: PIGA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIGA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PIEZO2 |
Zornitza Stark gene: PIEZO2 was added gene: PIEZO2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PIEZO2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PHKG2 |
Zornitza Stark gene: PHKG2 was added gene: PHKG2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PHKG2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PHKA2 |
Zornitza Stark gene: PHKA2 was added gene: PHKA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PHKA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PHGDH |
Zornitza Stark gene: PHGDH was added gene: PHGDH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PHGDH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PHF8 |
Zornitza Stark gene: PHF8 was added gene: PHF8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PHF8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PHF6 |
Zornitza Stark gene: PHF6 was added gene: PHF6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PHF6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PHC1 |
Zornitza Stark gene: PHC1 was added gene: PHC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PHC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PGK1 |
Zornitza Stark gene: PGK1 was added gene: PGK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PGK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PGAP3 |
Zornitza Stark gene: PGAP3 was added gene: PGAP3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PGAP3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PGAP2 |
Zornitza Stark gene: PGAP2 was added gene: PGAP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PGAP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PGAP1 |
Zornitza Stark gene: PGAP1 was added gene: PGAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PGAP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX7 |
Zornitza Stark gene: PEX7 was added gene: PEX7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX6 |
Zornitza Stark gene: PEX6 was added gene: PEX6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX5 |
Zornitza Stark gene: PEX5 was added gene: PEX5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX3 |
Zornitza Stark gene: PEX3 was added gene: PEX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX2 |
Zornitza Stark gene: PEX2 was added gene: PEX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX19 |
Zornitza Stark gene: PEX19 was added gene: PEX19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX19 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX16 |
Zornitza Stark gene: PEX16 was added gene: PEX16 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX16 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX13 |
Zornitza Stark gene: PEX13 was added gene: PEX13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX13 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX12 |
Zornitza Stark gene: PEX12 was added gene: PEX12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX11B |
Zornitza Stark gene: PEX11B was added gene: PEX11B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX11B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEX10 |
Zornitza Stark gene: PEX10 was added gene: PEX10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEX10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PET100 |
Zornitza Stark gene: PET100 was added gene: PET100 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PET100 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PEPD |
Zornitza Stark gene: PEPD was added gene: PEPD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PEPD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDSS2 |
Zornitza Stark gene: PDSS2 was added gene: PDSS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDSS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDSS1 |
Zornitza Stark gene: PDSS1 was added gene: PDSS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDSS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDP1 |
Zornitza Stark gene: PDP1 was added gene: PDP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDHX |
Zornitza Stark gene: PDHX was added gene: PDHX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDHX was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDHB |
Zornitza Stark gene: PDHB was added gene: PDHB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDHB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDHA1 |
Zornitza Stark gene: PDHA1 was added gene: PDHA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDHA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDGFRB |
Zornitza Stark gene: PDGFRB was added gene: PDGFRB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDGFRB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDGFB |
Zornitza Stark gene: PDGFB was added gene: PDGFB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDGFB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDE6D |
Zornitza Stark gene: PDE6D was added gene: PDE6D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDE6D was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDE4D |
Zornitza Stark gene: PDE4D was added gene: PDE4D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDE4D was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDE11A |
Zornitza Stark gene: PDE11A was added gene: PDE11A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDE11A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PDE10A |
Zornitza Stark gene: PDE10A was added gene: PDE10A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PDE10A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCNT |
Zornitza Stark gene: PCNT was added gene: PCNT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCNT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCDH9 |
Zornitza Stark gene: PCDH9 was added gene: PCDH9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCDH9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCDH19 |
Zornitza Stark gene: PCDH19 was added gene: PCDH19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCDH19 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCDH15 |
Zornitza Stark gene: PCDH15 was added gene: PCDH15 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCDH15 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCCB |
Zornitza Stark gene: PCCB was added gene: PCCB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCCB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCCA |
Zornitza Stark gene: PCCA was added gene: PCCA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCCA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PCBD1 |
Zornitza Stark gene: PCBD1 was added gene: PCBD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PCBD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PC |
Zornitza Stark gene: PC was added gene: PC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAX6 |
Zornitza Stark gene: PAX6 was added gene: PAX6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAX6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAX3 |
Zornitza Stark gene: PAX3 was added gene: PAX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAX3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAX2 |
Zornitza Stark gene: PAX2 was added gene: PAX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAX2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PRKN |
Zornitza Stark gene: PRKN was added gene: PRKN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PRKN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PANK2 |
Zornitza Stark gene: PANK2 was added gene: PANK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PANK2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAM16 |
Zornitza Stark gene: PAM16 was added gene: PAM16 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAM16 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAK3 |
Zornitza Stark gene: PAK3 was added gene: PAK3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAK3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAH |
Zornitza Stark gene: PAH was added gene: PAH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PAFAH1B1 |
Zornitza Stark gene: PAFAH1B1 was added gene: PAFAH1B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PAFAH1B1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | PACS1 |
Zornitza Stark gene: PACS1 was added gene: PACS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: PACS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OTX2 |
Zornitza Stark gene: OTX2 was added gene: OTX2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OTX2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OTC |
Zornitza Stark gene: OTC was added gene: OTC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OTC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ORC6 |
Zornitza Stark gene: ORC6 was added gene: ORC6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ORC6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ORC1 |
Zornitza Stark gene: ORC1 was added gene: ORC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ORC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OPHN1 |
Zornitza Stark gene: OPHN1 was added gene: OPHN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OPHN1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OPA3 |
Zornitza Stark gene: OPA3 was added gene: OPA3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OPA3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OGT |
Zornitza Stark gene: OGT was added gene: OGT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OGT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OFD1 |
Zornitza Stark gene: OFD1 was added gene: OFD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OFD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OCRL |
Zornitza Stark gene: OCRL was added gene: OCRL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OCRL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | OCLN |
Zornitza Stark gene: OCLN was added gene: OCLN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: OCLN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NUP62 |
Zornitza Stark gene: NUP62 was added gene: NUP62 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NUP62 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NUBPL |
Zornitza Stark gene: NUBPL was added gene: NUBPL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NUBPL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NTRK1 |
Zornitza Stark gene: NTRK1 was added gene: NTRK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NTRK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NTNG1 |
Zornitza Stark gene: NTNG1 was added gene: NTNG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NTNG1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NT5C2 |
Zornitza Stark gene: NT5C2 was added gene: NT5C2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NT5C2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NSUN2 |
Zornitza Stark gene: NSUN2 was added gene: NSUN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NSUN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NSDHL |
Zornitza Stark gene: NSDHL was added gene: NSDHL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NSDHL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NSD1 |
Zornitza Stark gene: NSD1 was added gene: NSD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NSD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NRXN1 |
Zornitza Stark gene: NRXN1 was added gene: NRXN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NRXN1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NRAS |
Zornitza Stark gene: NRAS was added gene: NRAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NRAS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NR2F1 |
Zornitza Stark gene: NR2F1 was added gene: NR2F1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NR2F1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NPHP3 |
Zornitza Stark gene: NPHP3 was added gene: NPHP3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NPHP3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NPHP1 |
Zornitza Stark gene: NPHP1 was added gene: NPHP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NPHP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NPC2 |
Zornitza Stark gene: NPC2 was added gene: NPC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NPC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NPC1 |
Zornitza Stark gene: NPC1 was added gene: NPC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NPC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NOTCH3 |
Zornitza Stark gene: NOTCH3 was added gene: NOTCH3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NOTCH3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NOP10 |
Zornitza Stark gene: NOP10 was added gene: NOP10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NOP10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NONO |
Zornitza Stark gene: NONO was added gene: NONO was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NONO was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NLGN4X |
Zornitza Stark gene: NLGN4X was added gene: NLGN4X was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NLGN4X was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NLGN3 |
Zornitza Stark gene: NLGN3 was added gene: NLGN3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NLGN3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NKX2-1 |
Zornitza Stark gene: NKX2-1 was added gene: NKX2-1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NKX2-1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NIPBL |
Zornitza Stark gene: NIPBL was added gene: NIPBL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NIPBL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NIN |
Zornitza Stark gene: NIN was added gene: NIN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NIN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NHS |
Zornitza Stark gene: NHS was added gene: NHS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NHS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NHP2 |
Zornitza Stark gene: NHP2 was added gene: NHP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NHP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NHLRC1 |
Zornitza Stark gene: NHLRC1 was added gene: NHLRC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NHLRC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NHEJ1 |
Zornitza Stark gene: NHEJ1 was added gene: NHEJ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NHEJ1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NGLY1 |
Zornitza Stark gene: NGLY1 was added gene: NGLY1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NGLY1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NGF |
Zornitza Stark gene: NGF was added gene: NGF was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NGF was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NFU1 |
Zornitza Stark gene: NFU1 was added gene: NFU1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NFU1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NFIX |
Zornitza Stark gene: NFIX was added gene: NFIX was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NFIX was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NFIA |
Zornitza Stark gene: NFIA was added gene: NFIA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NFIA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NF1 |
Zornitza Stark gene: NF1 was added gene: NF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NEU1 |
Zornitza Stark gene: NEU1 was added gene: NEU1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NEU1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NEGR1 |
Zornitza Stark gene: NEGR1 was added gene: NEGR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NEGR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NEDD4L |
Zornitza Stark gene: NEDD4L was added gene: NEDD4L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NEDD4L was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NECAP1 |
Zornitza Stark gene: NECAP1 was added gene: NECAP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NECAP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFV2 |
Zornitza Stark gene: NDUFV2 was added gene: NDUFV2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFV2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFV1 |
Zornitza Stark gene: NDUFV1 was added gene: NDUFV1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFV1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | NDUFS8 |
Zornitza Stark gene: NDUFS8 was added gene: NDUFS8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFS8 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | NDUFS7 |
Zornitza Stark gene: NDUFS7 was added gene: NDUFS7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFS7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFS6 |
Zornitza Stark gene: NDUFS6 was added gene: NDUFS6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFS6 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | NDUFS4 |
Zornitza Stark gene: NDUFS4 was added gene: NDUFS4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFS4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFS3 |
Zornitza Stark gene: NDUFS3 was added gene: NDUFS3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFS3 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | NDUFS2 |
Zornitza Stark gene: NDUFS2 was added gene: NDUFS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFS1 |
Zornitza Stark gene: NDUFS1 was added gene: NDUFS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFB9 |
Zornitza Stark gene: NDUFB9 was added gene: NDUFB9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFB9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFB3 |
Zornitza Stark gene: NDUFB3 was added gene: NDUFB3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFB3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFAF6 |
Zornitza Stark gene: NDUFAF6 was added gene: NDUFAF6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFAF6 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | NDUFAF5 |
Zornitza Stark gene: NDUFAF5 was added gene: NDUFAF5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFAF5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFAF4 |
Zornitza Stark gene: NDUFAF4 was added gene: NDUFAF4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFAF4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFAF3 |
Zornitza Stark gene: NDUFAF3 was added gene: NDUFAF3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFAF3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFAF2 |
Zornitza Stark gene: NDUFAF2 was added gene: NDUFAF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFAF2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFAF1 |
Zornitza Stark gene: NDUFAF1 was added gene: NDUFAF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFAF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFA9 |
Zornitza Stark gene: NDUFA9 was added gene: NDUFA9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFA9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFA2 |
Zornitza Stark gene: NDUFA2 was added gene: NDUFA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFA11 |
Zornitza Stark gene: NDUFA11 was added gene: NDUFA11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFA11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFA10 |
Zornitza Stark gene: NDUFA10 was added gene: NDUFA10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFA10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDUFA1 |
Zornitza Stark gene: NDUFA1 was added gene: NDUFA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDUFA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDST1 |
Zornitza Stark gene: NDST1 was added gene: NDST1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDST1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDP |
Zornitza Stark gene: NDP was added gene: NDP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDN |
Zornitza Stark gene: NDN was added gene: NDN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NDE1 |
Zornitza Stark gene: NDE1 was added gene: NDE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NDE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NBN |
Zornitza Stark gene: NBN was added gene: NBN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NBN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NALCN |
Zornitza Stark gene: NALCN was added gene: NALCN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NALCN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NAGS |
Zornitza Stark gene: NAGS was added gene: NAGS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NAGS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NAGLU |
Zornitza Stark gene: NAGLU was added gene: NAGLU was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NAGLU was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NAGA |
Zornitza Stark gene: NAGA was added gene: NAGA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NAGA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | NAA10 |
Zornitza Stark gene: NAA10 was added gene: NAA10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NAA10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MYT1L |
Zornitza Stark gene: MYT1L was added gene: MYT1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MYT1L was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MYO7A |
Zornitza Stark gene: MYO7A was added gene: MYO7A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MYO7A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MYO5A |
Zornitza Stark gene: MYO5A was added gene: MYO5A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MYO5A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MYH3 |
Zornitza Stark gene: MYH3 was added gene: MYH3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MYH3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MYCN |
Zornitza Stark gene: MYCN was added gene: MYCN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MYCN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MVK |
Zornitza Stark gene: MVK was added gene: MVK was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MVK was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MUT |
Zornitza Stark gene: MUT was added gene: MUT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MUT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTRR |
Zornitza Stark gene: MTRR was added gene: MTRR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTRR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTR |
Zornitza Stark gene: MTR was added gene: MTR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTPAP |
Zornitza Stark gene: MTPAP was added gene: MTPAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTPAP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTO1 |
Zornitza Stark gene: MTO1 was added gene: MTO1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTO1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTMR2 |
Zornitza Stark gene: MTMR2 was added gene: MTMR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTMR2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTM1 |
Zornitza Stark gene: MTM1 was added gene: MTM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTM1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTHFR |
Zornitza Stark gene: MTHFR was added gene: MTHFR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTHFR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MTFMT |
Zornitza Stark gene: MTFMT was added gene: MTFMT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTFMT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MSH6 |
Zornitza Stark gene: MSH6 was added gene: MSH6 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MSH6 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MRPS22 |
Zornitza Stark gene: MRPS22 was added gene: MRPS22 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MRPS22 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MRPS16 |
Zornitza Stark gene: MRPS16 was added gene: MRPS16 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MRPS16 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MRPL3 |
Zornitza Stark gene: MRPL3 was added gene: MRPL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MRPL3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MRAP |
Zornitza Stark gene: MRAP was added gene: MRAP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MRAP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MPZ |
Zornitza Stark gene: MPZ was added gene: MPZ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MPZ was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MPV17 |
Zornitza Stark gene: MPV17 was added gene: MPV17 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MPV17 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MPLKIP |
Zornitza Stark gene: MPLKIP was added gene: MPLKIP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MPLKIP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MPI |
Zornitza Stark gene: MPI was added gene: MPI was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MPI was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MPDZ |
Zornitza Stark gene: MPDZ was added gene: MPDZ was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MPDZ was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MPDU1 |
Zornitza Stark gene: MPDU1 was added gene: MPDU1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MPDU1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MOGS |
Zornitza Stark gene: MOGS was added gene: MOGS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MOGS was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | MOCS2 |
Zornitza Stark gene: MOCS2 was added gene: MOCS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MOCS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MOCS1 |
Zornitza Stark gene: MOCS1 was added gene: MOCS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MOCS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MNX1 |
Zornitza Stark gene: MNX1 was added gene: MNX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MNX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MMADHC |
Zornitza Stark gene: MMADHC was added gene: MMADHC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MMADHC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MMACHC |
Zornitza Stark gene: MMACHC was added gene: MMACHC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MMACHC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MMAB |
Zornitza Stark gene: MMAB was added gene: MMAB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MMAB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MMAA |
Zornitza Stark gene: MMAA was added gene: MMAA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MMAA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MLYCD |
Zornitza Stark gene: MLYCD was added gene: MLYCD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MLYCD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MLH1 |
Zornitza Stark gene: MLH1 was added gene: MLH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MLH1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MLC1 |
Zornitza Stark gene: MLC1 was added gene: MLC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MLC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MKS1 |
Zornitza Stark gene: MKS1 was added gene: MKS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MKS1 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | MKKS |
Zornitza Stark gene: MKKS was added gene: MKKS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MKKS was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | MIR17HG |
Zornitza Stark gene: MIR17HG was added gene: MIR17HG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MIR17HG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MID2 |
Zornitza Stark gene: MID2 was added gene: MID2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MID2 was set to Unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.0 | MID1 |
Zornitza Stark gene: MID1 was added gene: MID1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MID1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MGP |
Zornitza Stark gene: MGP was added gene: MGP was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MGP was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MGME1 |
Zornitza Stark gene: MGME1 was added gene: MGME1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MGME1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MGAT2 |
Zornitza Stark gene: MGAT2 was added gene: MGAT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MGAT2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MFSD8 |
Zornitza Stark gene: MFSD8 was added gene: MFSD8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MFSD8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MFN2 |
Zornitza Stark gene: MFN2 was added gene: MFN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MFN2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | METTL23 |
Zornitza Stark gene: METTL23 was added gene: METTL23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: METTL23 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MET |
Zornitza Stark gene: MET was added gene: MET was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MET was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MEIS2 |
Zornitza Stark gene: MEIS2 was added gene: MEIS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MEIS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MEGF8 |
Zornitza Stark gene: MEGF8 was added gene: MEGF8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MEGF8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MEF2C |
Zornitza Stark gene: MEF2C was added gene: MEF2C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MEF2C was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MED23 |
Zornitza Stark gene: MED23 was added gene: MED23 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MED23 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MED17 |
Zornitza Stark gene: MED17 was added gene: MED17 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MED17 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MED13L |
Zornitza Stark gene: MED13L was added gene: MED13L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MED13L was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MED12 |
Zornitza Stark gene: MED12 was added gene: MED12 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MED12 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MECP2 |
Zornitza Stark gene: MECP2 was added gene: MECP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MECP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MCPH1 |
Zornitza Stark gene: MCPH1 was added gene: MCPH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MCPH1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MCOLN1 |
Zornitza Stark gene: MCOLN1 was added gene: MCOLN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MCOLN1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MCM4 |
Zornitza Stark gene: MCM4 was added gene: MCM4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MCM4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MCCC2 |
Zornitza Stark gene: MCCC2 was added gene: MCCC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MCCC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MCCC1 |
Zornitza Stark gene: MCCC1 was added gene: MCCC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MCCC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MBTPS2 |
Zornitza Stark gene: MBTPS2 was added gene: MBTPS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MBTPS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MBD5 |
Zornitza Stark gene: MBD5 was added gene: MBD5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MBD5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAT1A |
Zornitza Stark gene: MAT1A was added gene: MAT1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAT1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MASP1 |
Zornitza Stark gene: MASP1 was added gene: MASP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MASP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MARS2 |
Zornitza Stark gene: MARS2 was added gene: MARS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MARS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAP2K2 |
Zornitza Stark gene: MAP2K2 was added gene: MAP2K2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAP2K2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAP2K1 |
Zornitza Stark gene: MAP2K1 was added gene: MAP2K1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAP2K1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAOA |
Zornitza Stark gene: MAOA was added gene: MAOA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAOA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MANBA |
Zornitza Stark gene: MANBA was added gene: MANBA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MANBA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAN2B1 |
Zornitza Stark gene: MAN2B1 was added gene: MAN2B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAN2B1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAN1B1 |
Zornitza Stark gene: MAN1B1 was added gene: MAN1B1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAN1B1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAGT1 |
Zornitza Stark gene: MAGT1 was added gene: MAGT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAGT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | MAGEL2 |
Zornitza Stark gene: MAGEL2 was added gene: MAGEL2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MAGEL2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LZTFL1 |
Zornitza Stark gene: LZTFL1 was added gene: LZTFL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LZTFL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LYST |
Zornitza Stark gene: LYST was added gene: LYST was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LYST was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LYRM7 |
Zornitza Stark gene: LYRM7 was added gene: LYRM7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LYRM7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LRPPRC |
Zornitza Stark gene: LRPPRC was added gene: LRPPRC was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LRPPRC was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LRP5 |
Zornitza Stark gene: LRP5 was added gene: LRP5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LRP5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LRP2 |
Zornitza Stark gene: LRP2 was added gene: LRP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LRP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LMNB1 |
Zornitza Stark gene: LMNB1 was added gene: LMNB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LMNB1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LMNA |
Zornitza Stark gene: LMNA was added gene: LMNA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LMNA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LMBRD1 |
Zornitza Stark gene: LMBRD1 was added gene: LMBRD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LMBRD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LIPT1 |
Zornitza Stark gene: LIPT1 was added gene: LIPT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LIPT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LIG4 |
Zornitza Stark gene: LIG4 was added gene: LIG4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LIG4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LIAS |
Zornitza Stark gene: LIAS was added gene: LIAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LIAS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LHX3 |
Zornitza Stark gene: LHX3 was added gene: LHX3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LHX3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LBR |
Zornitza Stark gene: LBR was added gene: LBR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LBR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LAS1L |
Zornitza Stark gene: LAS1L was added gene: LAS1L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LAS1L was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LARP7 |
Zornitza Stark gene: LARP7 was added gene: LARP7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LARP7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LAMP2 |
Zornitza Stark gene: LAMP2 was added gene: LAMP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LAMP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LAMC3 |
Zornitza Stark gene: LAMC3 was added gene: LAMC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LAMC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LAMB2 |
Zornitza Stark gene: LAMB2 was added gene: LAMB2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LAMB2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LAMB1 |
Zornitza Stark gene: LAMB1 was added gene: LAMB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LAMB1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LAMA2 |
Zornitza Stark gene: LAMA2 was added gene: LAMA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LAMA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | LAMA1 |
Zornitza Stark gene: LAMA1 was added gene: LAMA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LAMA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | L2HGDH |
Zornitza Stark gene: L2HGDH was added gene: L2HGDH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: L2HGDH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | L1CAM |
Zornitza Stark gene: L1CAM was added gene: L1CAM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: L1CAM was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KYNU |
Zornitza Stark gene: KYNU was added gene: KYNU was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KYNU was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KRAS |
Zornitza Stark gene: KRAS was added gene: KRAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KRAS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KPTN |
Zornitza Stark gene: KPTN was added gene: KPTN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KPTN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KMT2D |
Zornitza Stark gene: KMT2D was added gene: KMT2D was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KMT2D was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KMT2C |
Zornitza Stark gene: KMT2C was added gene: KMT2C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KMT2C was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KMT2B |
Zornitza Stark gene: KMT2B was added gene: KMT2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KMT2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KMT2A |
Zornitza Stark gene: KMT2A was added gene: KMT2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KMT2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KLLN |
Zornitza Stark gene: KLLN was added gene: KLLN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KLLN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KLF8 |
Zornitza Stark gene: KLF8 was added gene: KLF8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KLF8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIRREL3 |
Zornitza Stark gene: KIRREL3 was added gene: KIRREL3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIRREL3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF7 |
Zornitza Stark gene: KIF7 was added gene: KIF7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF5A |
Zornitza Stark gene: KIF5A was added gene: KIF5A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF5A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF21A |
Zornitza Stark gene: KIF21A was added gene: KIF21A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF21A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF1A |
Zornitza Stark gene: KIF1A was added gene: KIF1A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF1A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KIF11 |
Zornitza Stark gene: KIF11 was added gene: KIF11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KIF11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WASHC4 |
Zornitza Stark gene: WASHC4 was added gene: WASHC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WASHC4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | RUBCN |
Zornitza Stark gene: RUBCN was added gene: RUBCN was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: RUBCN was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | WASHC5 |
Zornitza Stark gene: WASHC5 was added gene: WASHC5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: WASHC5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KDM6A |
Zornitza Stark gene: KDM6A was added gene: KDM6A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KDM6A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KDM5C |
Zornitza Stark gene: KDM5C was added gene: KDM5C was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KDM5C was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCTD7 |
Zornitza Stark gene: KCTD7 was added gene: KCTD7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCTD7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCTD13 |
Zornitza Stark gene: KCTD13 was added gene: KCTD13 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCTD13 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNT1 |
Zornitza Stark gene: KCNT1 was added gene: KCNT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNQ2 |
Zornitza Stark gene: KCNQ2 was added gene: KCNQ2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNQ2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNK9 |
Zornitza Stark gene: KCNK9 was added gene: KCNK9 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNK9 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNJ11 |
Zornitza Stark gene: KCNJ11 was added gene: KCNJ11 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNJ11 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNJ10 |
Zornitza Stark gene: KCNJ10 was added gene: KCNJ10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNJ10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNJ1 |
Zornitza Stark gene: KCNJ1 was added gene: KCNJ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNJ1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCND3 |
Zornitza Stark gene: KCND3 was added gene: KCND3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCND3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNC3 |
Zornitza Stark gene: KCNC3 was added gene: KCNC3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNC3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KCNB1 |
Zornitza Stark gene: KCNB1 was added gene: KCNB1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KCNB1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KATNAL2 |
Zornitza Stark gene: KATNAL2 was added gene: KATNAL2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KATNAL2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KAT6B |
Zornitza Stark gene: KAT6B was added gene: KAT6B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KAT6B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KAT6A |
Zornitza Stark gene: KAT6A was added gene: KAT6A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KAT6A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KANSL1 |
Zornitza Stark gene: KANSL1 was added gene: KANSL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KANSL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | KANK1 |
Zornitza Stark gene: KANK1 was added gene: KANK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: KANK1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | JAM3 |
Zornitza Stark gene: JAM3 was added gene: JAM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: JAM3 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | JAG1 |
Zornitza Stark gene: JAG1 was added gene: JAG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: JAG1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IYD |
Zornitza Stark gene: IYD was added gene: IYD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IYD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IVD |
Zornitza Stark gene: IVD was added gene: IVD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IVD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ITPR1 |
Zornitza Stark gene: ITPR1 was added gene: ITPR1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ITPR1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ITGA7 |
Zornitza Stark gene: ITGA7 was added gene: ITGA7 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ITGA7 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ITCH |
Zornitza Stark gene: ITCH was added gene: ITCH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ITCH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | ISPD |
Zornitza Stark gene: ISPD was added gene: ISPD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ISPD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IRX5 |
Zornitza Stark gene: IRX5 was added gene: IRX5 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IRX5 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IQSEC2 |
Zornitza Stark gene: IQSEC2 was added gene: IQSEC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IQSEC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | INSR |
Zornitza Stark gene: INSR was added gene: INSR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: INSR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | INS |
Zornitza Stark gene: INS was added gene: INS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: INS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | INPP5E |
Zornitza Stark gene: INPP5E was added gene: INPP5E was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: INPP5E was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IMPA1 |
Zornitza Stark gene: IMPA1 was added gene: IMPA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IMPA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IMMP2L |
Zornitza Stark gene: IMMP2L was added gene: IMMP2L was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IMMP2L was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IL1RAPL1 |
Zornitza Stark gene: IL1RAPL1 was added gene: IL1RAPL1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IL1RAPL1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IKBKG |
Zornitza Stark gene: IKBKG was added gene: IKBKG was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IKBKG was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IGF2 |
Zornitza Stark gene: IGF2 was added gene: IGF2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IGF2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IGF1R |
Zornitza Stark gene: IGF1R was added gene: IGF1R was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IGF1R was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IGF1 |
Zornitza Stark gene: IGF1 was added gene: IGF1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IGF1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IGBP1 |
Zornitza Stark gene: IGBP1 was added gene: IGBP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IGBP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IFT27 |
Zornitza Stark gene: IFT27 was added gene: IFT27 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IFT27 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IFT172 |
Zornitza Stark gene: IFT172 was added gene: IFT172 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IFT172 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IFT140 |
Zornitza Stark gene: IFT140 was added gene: IFT140 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IFT140 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IFIH1 |
Zornitza Stark gene: IFIH1 was added gene: IFIH1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IFIH1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IER3IP1 |
Zornitza Stark gene: IER3IP1 was added gene: IER3IP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IER3IP1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IDUA |
Zornitza Stark gene: IDUA was added gene: IDUA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IDUA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IDS |
Zornitza Stark gene: IDS was added gene: IDS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IDS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IDH2 |
Zornitza Stark gene: IDH2 was added gene: IDH2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IDH2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | IBA57 |
Zornitza Stark gene: IBA57 was added gene: IBA57 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: IBA57 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HYLS1 |
Zornitza Stark gene: HYLS1 was added gene: HYLS1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HYLS1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HUWE1 |
Zornitza Stark gene: HUWE1 was added gene: HUWE1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HUWE1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HTRA2 |
Zornitza Stark gene: HTRA2 was added gene: HTRA2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HTRA2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HSPG2 |
Zornitza Stark gene: HSPG2 was added gene: HSPG2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HSPG2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HSPD1 |
Zornitza Stark gene: HSPD1 was added gene: HSPD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HSPD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HSD17B4 |
Zornitza Stark gene: HSD17B4 was added gene: HSD17B4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HSD17B4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HSD17B10 |
Zornitza Stark gene: HSD17B10 was added gene: HSD17B10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HSD17B10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HRAS |
Zornitza Stark gene: HRAS was added gene: HRAS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HRAS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HPRT1 |
Zornitza Stark gene: HPRT1 was added gene: HPRT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HPRT1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HPD |
Zornitza Stark gene: HPD was added gene: HPD was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HPD was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HOXD10 |
Zornitza Stark gene: HOXD10 was added gene: HOXD10 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HOXD10 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HOXA1 |
Zornitza Stark gene: HOXA1 was added gene: HOXA1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HOXA1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HNRNPU |
Zornitza Stark gene: HNRNPU was added gene: HNRNPU was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HNRNPU was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HNMT |
Zornitza Stark gene: HNMT was added gene: HNMT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HNMT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HMGCL |
Zornitza Stark gene: HMGCL was added gene: HMGCL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HMGCL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HLCS |
Zornitza Stark gene: HLCS was added gene: HLCS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HLCS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HIVEP2 |
Zornitza Stark gene: HIVEP2 was added gene: HIVEP2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HIVEP2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HIBCH |
Zornitza Stark gene: HIBCH was added gene: HIBCH was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HIBCH was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HGSNAT |
Zornitza Stark gene: HGSNAT was added gene: HGSNAT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HGSNAT was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HEXB |
Zornitza Stark gene: HEXB was added gene: HEXB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HEXB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HEXA |
Zornitza Stark gene: HEXA was added gene: HEXA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HEXA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HESX1 |
Zornitza Stark gene: HESX1 was added gene: HESX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HESX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HERC2 |
Zornitza Stark gene: HERC2 was added gene: HERC2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HERC2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HEPACAM |
Zornitza Stark gene: HEPACAM was added gene: HEPACAM was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HEPACAM was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HECW2 |
Zornitza Stark gene: HECW2 was added gene: HECW2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HECW2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HDAC8 |
Zornitza Stark gene: HDAC8 was added gene: HDAC8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HDAC8 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HDAC4 |
Zornitza Stark gene: HDAC4 was added gene: HDAC4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HDAC4 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HCN1 |
Zornitza Stark gene: HCN1 was added gene: HCN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HCN1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HCFC1 |
Zornitza Stark gene: HCFC1 was added gene: HCFC1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HCFC1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HCCS |
Zornitza Stark gene: HCCS was added gene: HCCS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HCCS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HAX1 |
Zornitza Stark gene: HAX1 was added gene: HAX1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HAX1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HAL |
Zornitza Stark gene: HAL was added gene: HAL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HAL was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HADHB |
Zornitza Stark gene: HADHB was added gene: HADHB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HADHB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | HADHA |
Zornitza Stark gene: HADHA was added gene: HADHA was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: HADHA was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | H19 |
Zornitza Stark gene: H19 was added gene: H19 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: H19 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GYS2 |
Zornitza Stark gene: GYS2 was added gene: GYS2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GYS2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GUSB |
Zornitza Stark gene: GUSB was added gene: GUSB was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GUSB was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GTF2IRD1 |
Zornitza Stark gene: GTF2IRD1 was added gene: GTF2IRD1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GTF2IRD1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GTF2I |
Zornitza Stark gene: GTF2I was added gene: GTF2I was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GTF2I was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GSS |
Zornitza Stark gene: GSS was added gene: GSS was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GSS was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GSPT2 |
Zornitza Stark gene: GSPT2 was added gene: GSPT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GSPT2 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GRPR |
Zornitza Stark gene: GRPR was added gene: GRPR was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRPR was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GRM1 |
Zornitza Stark gene: GRM1 was added gene: GRM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRM1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GRIN2B |
Zornitza Stark gene: GRIN2B was added gene: GRIN2B was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRIN2B was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GRIN2A |
Zornitza Stark gene: GRIN2A was added gene: GRIN2A was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRIN2A was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GRIN1 |
Zornitza Stark gene: GRIN1 was added gene: GRIN1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRIN1 was set to Unknown |
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| Intellectual disability syndromic and non-syndromic v0.0 | GRIK2 |
Zornitza Stark gene: GRIK2 was added gene: GRIK2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GRIK2 was set to Unknown |
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